PNP Management 3: Exam #2

-Multisystem genetic disorder that includes:
chronic obstructive pulmonary disease (COPD)
GI disturbances
endocrine dysfunction

-Fetal ultrasound may reveal hyperechoic bowel:
which is suggestive of meconium ileus and present in about 10% of fetuses with CF

-Lungs of children with CF are NORMAL at birth but become inflamed with chronic airway infection shortly after birth.

-Meconium ileus
-Delayed meconium passage
-Meconium plug
-Presentation in this period may also include:
prolonged jaundice
intestinal atresia
edema, hypoproteinemia, and acrodermatitis enteropathica due to malabsorption
hemorrhagic disease of the newborn due to vitamin K deficiency

-Cough
-Colonization with bacteria in mucus
-Bacterial pneumonia
-Failure to thrive
-Hypoproteinemia, hypochloremic dehydration

-Abdominal distension
-Cholestasis
-Rectal prolapse
-Steatorrhea
-Distal intestinal obstructive syndrome (DIOS)
-Hemolytic anemia

Infants with CF who are fed soy-based formulas do very poorly

Severe hypoproteinemia and anasarca

-Respiratory manifestations such as chronic infections of the sinuses and respiratory tract, nasal polyposis, or poorly controlled asthma
-Bronchiectasis
-Allergic bronchopulmonary aspergillosis (ABPA)
-Digital clubbing
-GI manifestations: poor weight gain and growth, steatorrhea, chronic constipation, rectal prolapse, DIOS, and idiopathic pancreatitis/liver disease

-ABPA (Allergic Bronchopulmonary Aspergillosis)
-Chronic pansinusitis
-Nasal polyposis
-Bronchiectasis/hemoptysis
-Idiopathic pancreatitis

-Osteoporosis
-Diabetes
-Obstructive azoospermia

Pancreatic enzyme insufficiency

Bulky, malodorous stools

-May become colonized with:
S. Aureus
H. influenzae
P. aeruginosa
-A slower-growing organism that may be found in children with CF is Burkholderia cepacia

-Typically have progressive pulmonary disease that leads to: cor pulmonale
respiratory failure
death by adulthood

-Distal intestinal obstructive syndrome (DIOS) can occur when viscous fecal matter causes blockage in the distal intestine
-Patients with DIOS may present with abdominal pain and distention
-DIOS is a result of poor fat absorption, pancreatic insufficiency, and dehydration

-Vitamin D Deficiency can cause osteoporosis when bone reabsorption exceeds bone formation
-Children with CF have salty skin, secondary to elevated amounts of sodium chloride loss in endogenous sweat
-They should be monitored for dehydration and heat exhaustion

-Children with CF have delayed sexual development
-Due to CFTR dysfunction/delayed puberty can lead to male sterility

-Inguinal hernia
-Undescended testes
-Hydrocele

-Secondary amenorrhea
-Cervicitis
-Decreased fertility

-Diagnosis of CF is based on evidence of CTFR dysfunction and signs and symptoms of the disease
-Newborn Screening:
newborn screening (NBS) provides early identification of CF and referral to CF centers. NBS detects over 60% of new diagnoses
-Sweat Test:
there are false negative NBS, so if an infant has signs or symptoms of CF, a sweat test should be performed
-Diagnosis can be made with a positive newborn screen (NBS), but those infants with an inconclusive NBS are identified as having CF-related metabolic syndrome (CRMS)

-Many NBS algorithms done by states identify immunoreactive trypsinogen or trypsin (IRT)
-Require 2 IRT measurements, a DNA CFTR mutation panel if IRT is elevated
OR
-If IRT concentration with follow up DNA CFTR mutation panel
-If IRT is elevated or the child has one mutation CFTR then PCP should be notified and child referred for sweat test

Hypochloremic alkalosis

In warm weather or after gastroenteritis

Salty

Pilocarpine Iontophoresis

A sodium chloride concentration greater than 60mmol/L is indicative of CF

Range of 30-59

Less than 30mmol/L

Children with CF who have hypoproteinemia

-Chronic cough
-Recurrent pneumonia
-Nasal polyps
-Digital clubbing

-Failure to thrive
-Jaundice
-Rectal prolapse
-Intussusception
-Pancreatitis

-Treatment plans for CF are complicated and should be monitored by an interprofessional team at a CF-accredited center
-Management of CF is age dependent and all areas must be included: pulmonary, nutritional, physical therapy, pharmacologic therapy, and psychological counseling

-Inhaled dornase alpha for airway clearance
-Hypertonic saline to thin secretions
-High frequency chest wall oscillation twice daily to aide in secretion removal
-CFTR modulators are indicated for use in some children with CF, but should be used with caution in children with advanced liver disease
-High dose ibuprofen and oral azithromycin to reduce chronic airway inflammation
-Monitoring for signs or symptoms of pneumothorax
-Some patients require lung transplantation

-Exogenous pancreatic enzyme replacement therapy (PERT) with each meal and snack, in addition to a fat-soluble vitamin supplement
-Replacement of vitamins A, D, E, and K as well as annual serum monitoring of the levels
-Avoiding hepatotoxic drugs in patients with CF liver disease
-Managing DIOS with IV hydration, polyethylene Glycol solution, and oral laxatives

-Oral glucose tolerance test performed annually to monitor for CF related diabetes beginning at age 10 years old. Hgb A1C is not recommended
-Insulin is used to treat CF related diabetes

-Ensuring transition for adults with CF to an adult care clinic
-Ensuring reproductive health is addressed
-Parent/caregiver education

-Pectus Excavatum (PE)
-Pectus Carinatum
-Both have a male predominance

-Is a depression of the lower sternum and lower ribs and makes up 95% of all thoracic abnormalities.
-Caused by costochondral cartilage growth abnormalities and can develop as a result of other problems.

-It is believed to be an autosomal dominant trait.
-It is also associated with inheritable connective tissue disease such as Marfan and Ehlers-Danlos syndrome

-Congenital diaphragmatic hernia
-Muscular disease like spinal muscular atrophy (SMA) and muscular dystrophy (MD)
-Subglottic Stenosis

-Vary from no effect to self-image concerns.
-If severe it can impair pulmonary and cardiac function or cause precordial pain following exercise.
-It can interfere with respiratory function; lung volumes, although often NORMAL can be decreased.
-The chest has a smaller anteroposterior diameter, which can lead to decrease in cardiac stroke volume and output.

-When it is severe, the heart can be compressed or displaced to the left causing the great vessel to rotate.
-Additional risk of cardiac dysrhythmias due to lower oxygen supply to the heart.

The length of the sternum and the adjacent ribs

-Cup-shaped
-Flat or saucer-shaped
-Asymmetric

-Cup-Shaped:
classic deformity and involves only the lower part of the sternum
-Flat or Saucer-Shaped:
long pectus that involves most of the sternum

-Asymmetric:
involves asymmetry between the left and right hemithorax, with the right side more affected and slight rotation of the sternum.
-Asymmetric:
sternum is also slightly rotated in this deformity, with more than a 30-degree rotation considered a significant torsion.

-Is less common than PE
-Progresses during puberty

-There is a bowing out of the sternum (also called "Pigeon chest")
-The sternum has a forward symmetric protrusion.
-Although this shape may be cosmetically unattractive, there are fewer complaints about shortness of breath, chest pain or dyspnea.

-Chondrogladiolar
-Costomanubrial
-Horseshoe
-Asymmetric

-Exercise intolerance
-Easy fatiguability
-Wheezing
-Chest tightness
-Chest pain
-Palpitations
-Dizziness

-Psychological effects can be marked as children are teased by their peers, which intensifies during puberty.
-Poor self-image can interfere with social activities and cause isolation.

-Chest x-ray
-Chest CT
-MRI

Patients with severe deformity and physiological effects should be referred to a cardiologist for pulmonary function tests and exercise testing with an echocardiogram for further evaluation

Healthcare providers need to evaluate for a possible genetic etiology of pectus excavatum and make appropriate referral to a geneticist

-Excavatum deformity is significant, surgical repair may be indicated.
-Indications for surgery are based on the degree of psychological and physical impairment rather than the severity of the pectus carinatum or PE.
-Surgery before the age of 8 years is NOT part of management for a child with PE because the timing of surgery because it is usually at the onset of puberty

-Left to right shunting (oxygenated blood shunting to the deoxygenated side)
-Because the blood that is being shunted is oxygenated, these children are going to be cyanotic

-ASD (atrial septal defect)
-VSD (ventricular septal defect)
-PDA (patient ductus arteriosus)
-Atrioventricular Septal Defect (AVSD)

-Optimization of caloric intake and growth
-Optimization of psychosocial development and functioning
-Preventative vaccines with avoidance of live virus vaccines in children for 6 months after cardiopulmonary bypass
-Prevention of avoidable complication such as respiratory infections

-Prevention of infective endocarditis, or subacute bacterial endocarditis (SBE), which is associated with high rates of morbidity and mortality.
-Optimizing physical activity after carefully asessing the child and determining the child's capacity for physical activity
-Optimization of neurodevelopment activities in school and life tasks.
-Suspected cardiac findings should prompt immediate referral to the pediatric cardiologist.

-A hole in the atrial septum
-Commonly presents in children during late adolescence or early adulthood

-Most small to moderate osmium secundum ASDs can be closed percutaneously in the cardiac catheterization lab if the child weighs more than 15kgs and there are adequate margins to anchor the device
-If the defect is large or unfavorable for device closure, cardiac surgery is indicated
-SBE prophylaxis precautions are necessary only in the first 6 months after cardiac surgery or device closure. Low aspirin is prescribed for 6 months after transcatheter device closure. In adolescents, other anti platelet agents may be used such as clopidogrel

-Long term outcome is excellent after ASD repair.
-However, there is a small incidence of atrial arrhythmias due to the atriotomy scar.

-Right ventricular enlargement
-Fibrosis
-Failure
-Although rare in children paradoxical emboli can occur

-Small defects should be monitored every 6 months during the first year, then biannually to assess for closure
-They do NOT need subacute bacterial endocarditis (SBE) prophylaxis if repaired
-Small defects may close on their own

Larger defects require intervention after 1 year and before school or when the defect is identified in an older child

-Lanoxin, diuretics, ACE inhibits, beta blockers
-Careful monitoring of nutrition and weight gain by the PCP
-Surgery for closure if no improvement with generally good long term outcomes
-Recommendation of SBE prophylaxis 6 months after surgery.

Can result in right ventricular enlargement and severe irreversible pulmonary hypertension

-Teach family signs and symptoms of progressing CHF.
-Exercise restriction is NOT indicated
-Prophylaxis is recommended to prevent subacute bacterial endocarditis (SBE).

Amoxicillin 50mg/kg

Ampicillin 50mg/kg IM or IV OR Cefazolin 50mg/kg IM or IV

Cephalexin 50mg/kg OR Clindamycin 20mg/kg OR Azithromycin 15mg/kg

Cefazolin 50mg/kg IM or IV OR Clindamycin 20mg/kg IM or IV

-Defect in the ventricular septum, with the perimembranous subtype being the most common.
-They account for 20-30% of all congenital heart defects and most close by the time the child is 4 years old.

-Small defects should be monitored every 6 months in the first year, then biannually to assess for closure.
-They do NOT need SBE prophylaxis if unrepaired.
-Some defects may never close and cause no difficulty.

-Lanoxin, diuretics, ACE inhibitors, beta-blockers
-Careful monitoring of nutrition and weight gain by the PCP
-Surgery for closure if no improvement and usually excellent outcomes after surgery repair.
-SBE prophylaxis 6 months after surgery

-Teach the family the signs and symptoms of progressing CHF
-It is important to teach families to fortify an infants calories to 24,27,30 kcal/oz as needed.
-Arrange for nasograstic tube for young infants struggling to meet their caloric needs.

-Residual VSD
-Aortic Insufficiency secondary to aortic cusp prolapse
-Arrhythmias

Occurs when variable portions of the endocardial cushion are absent, resulting in complete, partial, transitional or intermediate defects and varying.

Arioventricular septal defect

-Should be monitored every3-6 months in the first year, and then biannually until the defect is closed surgically in toddler or preschool years.
-AVSD patients may gain weight slowly, but they usually do NOT have CHF.
-Infants with complete AV canal need surgery before 6 months of age.

-SBE prophylaxis is indicated before surgery and 6 months after surgical repair.
-Digoxin, diuretics, ACE inhibitors, beta-blockers
-Nutritional monitoring/support

-Regurgitant or stenotic AV valve
-Arrhythmias
-Pulmonary HTN

-Educate families about CHF signs and symptoms.

-Normally closes in the first 12-72 hours of birth and permanent closure typically occurs by 2-3 weeks of age in term infants.
-In larger PDAs, increasing signs of congestive heart failure may appear in the first few weeks of life.
-If they're small though, they may be asymptomatic.
-The incidence of PDA is 5-10% of all congestive heart defects, with the female to male ration being 3 to 1.

-Indomethacin or Ibuprofen to effect closure in preterm infants. It is contraindicated for older infants.
-If the PDA is asymptomatic or small shunt, follow the patient for spontaneous closure.
-Interventional cardiology to close shunt in children 8 months old by inserting coils or closure plugs into the shunt.
-Families should be reassured their child will live an active, normal life.
-SBE prophylaxis for 6 months after closure.

Shunting from the deoxygenated side to the oxygenated side of the heart, so there is deoxygenated blood going to the rest of the body

A congenital heart defect where the aorta and pulmonary artery are switched.

The aorta rises from the right ventricle instead of the left

The pulmonary artery rises from the left ventricle instead of the right

Systemic blood is recirculating with oxygenation, and oxygenated blood does not reach the rest of the body.

Cyanosis is usually evident within one hour to one day after birth

-Symptoms of congestive heart failure may be present
-Children with TGA are often large for gestational age

-Correction of electrolytes, acid-base imbalance.
-IV prostaglandin E1 to delay closure or reopen ductus arteriosus.
-Balloon partial septostomy to promote mixing of oxygenated and unoxygenated blood.
-Arterial switch surgery (Jatene Procedure) in first few days of life.

-Monitor patient closely throughout their life
-Annual echocardiogram.
-SBE precautions for life.
-Close monitoring for long-term patency and growth of coronary arteries.
-Neoplumonic stenosis and neoaortic regurgitation may occur.

-Refer the patient to pediatric cardiologist immediately.
-Refer patents with history of palpitations, syncope, or dyspnea.

-There is a 50% mortality rate in the first month of life and 90% by the first year without treatment.
-There are generally excellent long-term results after surgery.

-Four defects with this heart defect.
-Patient may or may not have cyanosis if the valvular stenosis is mild.
-The right to left shunting that occurs across the VSD will cause the cyanosis to increase over the first few months of life.

-Pulmonary valve stenosis
-Right ventricular hypertrophy
-VSD
-Overriding aorta.

-Ductus maintained with prostaglandin E1 in newborns with severe pulmonary obstruction.
-Hypercyanotic episodes: knee-chest position, oxygen, or morphine sulfate.
-Complete repair with open-heart surgery in infancy.
-Lifelong cardiology follow-up.
-SBE prophylaxis until 6 months after surgery.

-Pulmonary valve regurgitation
-Atrial & ventricular arrhythmias and require lifelong cardiology follow-up.

Increases systemic resistance, decrease right to left shunting and increases pulmonary blood flow.

-There is functionally only one ventricle, or either right or left morphology, so the heart must pump blood to both circulations.
-Oxygenated and deoxygenated blood mix in the ventricle, and the child is cyanotic.
-Most children require palliative procedures to survive.

-Results from a small right ventricle without access from the right atrium.
-Blood that returns from systemic circulation passes through an ASD to the left atrium, the left ventricle, and then into the lungs or body.

-Results from intrauterine stenosis of either the mitral or aortic valves, or both, causing a small left ventricle and hypoplasia of the ascending aorta and arch.
-HLHS is associated with some genetic conditions such as Turner Syndrome and some central nervous system abnormalities.

-Intravenous PGE1 may be indicated in newborns.
-Most children are initially palliated with aortopulmonary shunts or other procedures depending on their anatomy.
-At 4 to 6 months old, palliation is continued with a bidirectional anastomosis of the SVC to the pulmonary artery.
-The third stage of palliation (Fontan procedure) occurs at 2 to 4 years old; the IVC is connected to the pulmonary artery.

-Some children are considered for cardiac transplantation early in life if their anatomy is not amendable to the Fontan pathway or heart function and pulmonary vascular resistance do not allow completion of palliative staging
-Families require support throughout the child's life.
-Frequent surgeries and hospitalization scan interfere with normal social development.
-SBE prophylaxis is recommended while the child remains cyanotic.

-Pulmonic valve stenosis
-Aortic stenosis
-Aortic insufficiency

-Ventricular hypertrophy from increased pressure load, just like we found the right ventricular hypertrophy because of the narrowing of the pulmonic valve.
-Sudden death presumably due to arrhythmias can occur with increasing severity of stenosis and any exertion.

-Growth and development may be normal for these patients.
-Activity intolerance
-Fatigue
-Chest pain
-Syncope can develop or increase with age.

-Congestive heart failure
-Low cardiac output
-Shock

-Balloon valvuloplasty as palliative treatment in newborn; surgical intervention in older children.
-SBE prophylaxis for 6 months after surgery.
-Anticoagulation with mechanical valve replacement

Children with mild AS may participate in sports with annual exams.

Children with moderate AS should only participate in low-intensity sports.

Children with severe AS should avoid sports altogether.

Narrowing of the pulmonic valve

Children with pulmonic stenosis are usually asymptomatic, with a murmur noted on a routine physical exam

They will have dyspnea and fatigue with any exertion as the stenosis gets worse

Their hearts have to work harder trying to pump blood from the pulmonary artery to the lungs.

Cyanosis from right to left shunting at the foramen ovale.

Growth and development are usually normal.

-If mild, the child is treated normally.
-Surgical management includes balloon valvuloplasty.
-SBE prophylaxis for only 6 months after surgery or if prosthetic material was used.

Narrowing of the small or long segment of the aorta

To ensure there are good pulses in the lower part of the body

-Systolic and diastolic hypertension in vessels proximal to the narrowing
-Hypotension in vessels distal to the narrowing
-Appears once the ductus closes (6 weeks)
-Tachypnea
-Poor feeding
-Cool lower extremities
-The severity, location, and degree of obstruction determines the symptoms

Prostaglandin E₁

Surgical resection of the constricted area; dilatation if mild; bypass grafting, other procedures

Antihypertensive medication

Yes, if blood pressure meets guidelines

Monitoring for risk of recoarctation

Only in the 6-month postoperative period

-90% of patients with corrected cardiac conditions live to adulthood, however surgical correction is often palliative in nature or incompletely corrective.
-With that in mind, you should be aware of potential long-term complications in these cardiac patients.

-Include stenosis or regurgitation
-Patients may develop:
exercise intolerance
dyspnea
arrhythmias
sudden death
endocarditis
syncope
angina

-Increased pulmonary vascular resistance
-Eisenmenger syndrome
-Arrhythmias
-Dyspnea
-Deterioration of left ventricular function

-Mitral valve prolapse
-Arrhythmias
-Sudden death.

-Chronic cyanosis
-Myocardial ischemia
-Poor ventricular compliance
-These patients may require a heart transplant.

-Many cardiac patients are lost to follow-up as adults.
-Adolescents should therefore be transitioned to adult cardiology providers.

-Group of complex, chronic disorders characterized by hemolysis, unpredictable acute complications, and possible organ damage
-Children with homozygous inheritance have SCA disease (Hgb SS)
-Children with SCA synthesize Hgb S instead of Hgb A
-Hgb S comes out of solution at low Paₒ₂, which causes sickling
-Sickled cells clog small blood vessels, causing ischemia, pain, and other vaso-occlusive problems
-SCA has an autosomal recessive pattern

Most commonly found in persons of:
african descent
mediterranean
caribbean
central and South America
india

Routine neonatal screening of all newborns identifies most cases of infants born with SCA in the United States

-Heterozygous (Hgb A + Hgb S), which is the "Sickle Cell trait"
-Symptomatic with hypoxia
-Higher incidence of sudden death
-Fatigue/anemia
-Abdominal pain
-Pain crises
-Dactylitis/arthritis

-Bacterial infections
-Lung/heart injury
-Leg ulcers
-Priapism (prolonged erection)
-Splenic sequestration (red blood cells become trapped in spleen)
-Aseptic necrosis or bone infarcts
-Eye damage
-Abdominal pain

-Symptoms emerge in first 6 months of life, including painful vaso-occlusive crises
-Emerges because hemoglobin S increases and hemoglobin F declines

Splenomegaly disappears after 5 years from auto-infarction of organ

Height and weight slow after 7 years

Puberty is delayed by 3-4 years

-Hct: 20-29%
-Hgb: 6 to 10
-Reticulocyte count elevated: 5 to 15%
-Normal to increased WBCs and platelets
-MCV: >80
-MCHC: >37
-Morphology: irreversibly sickled cells or chronic elliptocytes, Howell-Jolly bodies, nucleated RBCs
-Hgb electrophoresis—predominance of Hgb S

-Consultation with a pediatric hematologist and following NIH expert panel evidence-based guidelines
-Children with SCA are co-managed by their PCP and the hematology specialists
-The primary care provider helps with coordinated consultative services, closely monitors growth, and advises that immunizations should be performed on time—including an annual flu vaccine
-The PCP provides parental/caregiver support and helps to provide primary care support throughout acute crises and hospitalizations

-Hydration, illness prevention, and pain management
-CBC, reticulocyte counts every few months
-Penicillin V prophylaxis until age 5 years
-Folic acid supplementation
-Aggressive treatment of infections
-Treatment of coexisting problems associated with hypoxia
-Hydroxyurea for severe SC
-Annual stroke prevention screening of major intracranial vessels for kids 2 years and 16 years

-All vaccines should be administered on time
-PCV13: 4 doses at appropriate times
-PPSV23: first dose at 24 months and 2nd dose give 3 years after the first dose
-Hib and meningococcal: 2, 4, 6, and 12 to 15 months of age with booster of meningococcal every 5 years after
-Annual flu vaccine

-Fever greater than 101° F
-Pneumonia, chest pain, or other pulmonary symptoms
-Sequestration crisis
-Aplastic crisis
-Severe pain crisis
-Unusual headache, visual disturbances
-Priapism

-Chronic sequelae of persistent:
bone pain
leg ulcers
-Pregnancy
-Contraception

-Functional Asplenia:
the greatest concern is febrile illness, indicating infection and possible sepsis
-Pneumococcal Sepsis:
a serious threat and all symptoms of fever, poor feeding, lethargy, and irritability should be thoroughly investigated

-Hemolysis:
potential for anemia, jaundice, cholelithiasis, and delayed growth or puberty
-Vaso-Occlusion/Ischemia:
potential for acute or chronic injury to any organ system

-Routine immunizations
-Prophylactic antibiotics
-Genetic counseling
-Support groups
-Educating adolescents with trait
-Hematopoietic stem cell transplant
-Gene therapy

-Hereditary hypochromatic anemia, caused by the absence or decreased synthesis of normal Hgb polypeptide chains
-It is categorized into two groups:
alpha
beta

-Composed of several variant hemoglobins that cause a variety of presentations
-Gene deletions of alpha globin correlate with disease severity
-Two types:
homozygous Hgb type
homozygous Hgb H

-Hydrops fetalis
-Incompatible with life

-Microcytic, hypochromic
-Manifests by:
hemolytic anemia
hepatosplenomegaly
mild jaundice

-Onset of symptoms before 3-6 months of age
-It is also associated with a family history of:
anemia
miscarriage
jaundice
gallstones
splenomegaly

-There is currently no treatment for the carrier states of alpha thalassemia
-Management includes occasional transfusion during hemolytic/aplastic crises
-Recommend genetic counseling for carriers of alpha thalassemia regarding reproduction
-Avoid contact sports

Mild, hypochromic, microcytic anemia

-Measure:
serum iron or lead levels
transferrin saturation
serum ferritin level

-Primary diagnostic: increased Hgb A2 (>3.5%) on electrophoresis
-Generally asymptomatic
-May present with mild pallor and splenomegaly
-Hgb: 9.5 to 11
-Hct: <30%
-MCV: <75

-There is no specific treatment for beta thalassemia
-Management should focus on family education regarding genetic testing and counseling for all family members
-Must be monitored for iron accumulation

Associated with severe anemia resulting from the decreased production or absent production of Hemoglobin A and hemolysis from the precipitation of excess alpha chains in the red blood cell

-Infants become symptomatic in the first year of life
-Pallor
-Failure to thrive
-Hepatosplenomegaly
-Severe anemia: Hgb 6 and low MCV 60-70
-Hgb A and Hgb F are elevated

-Collaboration with pediatric hematology
-Red blood cell transfusion about every 2-4 weeks with a goal to maintain a hemoglobin between 9.5 and 10.5
-These patients require iron chelation to treat the hyperbaric state that is associated with repeated transfusion and to prevent complications of the heart, liver and endocrine system
-May undergo splenectomy and gene therapy
-Regular iron monitoring due to the increased iron absorption

-When serum ferritin concentrations are excessive (>300, >400, or >1000)
-When MRI shows presence of iron loading in critical organs such as the liver and heart

-Causes prolonged bleeding either spontaneously from small vessels or as a result of trauma
-Genes for coagulation factors are sex-linked and recessive, therefore males are primarily affected
-Females are only carriers of the disease

Deficiency in Factor VIII

Deficiency in Factor IX

-A positive family history
-Excessive bruising
-Prolonged bleeding from mucous membranes after minor lacerations, immunizations, circumcision, or during menstruation
-Hemarthrosis characterized by pain and swelling in the elbows, knees, and ankles
-Prolonged aPTT
-Specific assay for factor VIII or IX to confirm

-Prevention of trauma
-Replacement therapy to increase factor Ⅷ or factor Ⅸ activity in plasma
-Application of cold and pressure to affected painful joints
-Immunizations should be given with a 26 gauge needle or IM with a 23 gauge needle followed by firm pressure without rubbing, and put ice on the site for several minutes
-Children may need iron replacement in severe bleeding disorders
-PT may be needed to assist with decreased mobility caused by hemarthrosis and joint scaring

Interdisciplinary approach at hemophilia center with PCP remaining central to the child's care

-Counsel caregivers to avoid aspirin and other NSAIDs
-Anticipatory guidance includes avoidance of high-risk behaviors, contact sports, and wearing a bike helmet
-Psychosocial interventions may be needed to assist family with overprotectiveness or permissiveness

-Bleeding in closed areas such as joints
-Brain hemorrhage
-Anemia
-Hypovolemic shock

-Results from Factor VIII binding with von Willebrand factor (vWF) in plasma, causing either reduced vWF protein or abnormal vWF protein
-Occurs in both sexes and is the most common inherited bleeding disorder

Reduced factors

Qualitatively abnormal

Abnormal

-Mucous membrane bleeding, easy bruising, and excessive post-traumatic or post-surgical bleeding
-History of ecchymosis of trunk, upper arms, and thighs
-Factor XIII clotting usually decreased
-vWF antigen usually decreased and decreased vWF

-Management is dependent on the type and severity of the disease
-Treatment modalities include DDAVP (desmopressin) and factor Ⅷ-vWF concentrates
-Treatment may also include estrogen and/or aminocaproic acid depending on factor deficiency
-Many patients now receive lifelong prophylaxis for bleeding prevention and to preserve joints

-Recommended treatment includes prophylaxis therapy for children with severe disease initiated with the first joint bleed, often in the first year of life as mobility increases
-Aminocaproic acid (an antifibrinolytic agent) can be used for nosebleeds and tooth extractions
-The family should be given a written treatment plan detailing the location of the bleed and specific replacement product dosage, as well as clearly documenting this plan in the medical record

-Most common:
leukemia
lymphoma
brain cancer
-Clinical signs of cancer are often vague and non-specific, similar to those of a benign illness
-Symptoms include weight loss, headaches, swelling or pain, excessive bruising, bleeding, rash, infections, nausea, fatigue, and fever

-Most common childhood cancer and accounts for up to 30% of all childhood cancers
-It results from changes in circulating leukocytes and is classified by which cell types are involved and by cellular differentiation
-Normal bone marrow elements are replaced by abnormal, poorly differentiated lymphocytes known as blast cells

-Acute Lymphoblastic Leukemia (ALL) accounts for about 80% of childhood leukemias
-Acute Myeloid Leukemia (AML) accounts for 15% of leukemia cases in children

-Repeated infection, fever, and weight loss
-Bleeding episodes
-Lymphadenopathy, hepatosplenomegaly
-Bone or joint pain

-CBC with differential, WBCs, platelet, and reticulocyte counts:
patients usually have thrombocytopenia and anemia.
-Peripheral smear:
may demonstrate malignant cells
-Bone marrow aspirate:
demonstrating an infiltration of blast cells replacing normal elements of the marrow:
-Chromosomal and genetic abnormalities:
found in most children with ALL

-Treatment programs for leukemia usually include 4-6 weeks of induction (usually with vincristine, prednisone, and L-asparaginase), followed by a consolidation phase of several months, and then a maintenance phase for 2-3 years
-Treatment for children with AML usually includes induction chemotherapy, CNS prophylaxis, and post-remission therapy
-Those with high-risk AML may require allogenic stem cell transplantation from an HLA-matched sibling or parents when they are in the first complete remission
-Immunization administration should occur, dependent on the stage of treatment

-Long-term effects of cancer therapy may include effects on cognition, neuropsychologic functioning, growth deficiencies, and an increased risk for development of secondary malignancies such as AML or lymphoma
-CNS irradiation is associated with learning disabilities and lower intelligence
-The PCP should closely monitor for failed remission or metastasis and late effects of cancer treatment
-In ALL, an allogenic stem cell transplant is not considered until the second complete remission

-Solid neoplasms lymphocytic in nature
-They are divided into two groups:
non-Hodgkin Lymphoma (NHL)
Hodgkin Lymphoma

-Consist of solid tumors of lymphatic tissues originating from malignant proliferation of T cells, B cells, or indeterminate lymphocyte
-Pediatric subtypes include Burkitt lymphoma, diffuse large B-cell lymphoma, lymphoblastic lymphoma, and anaplastic large-cell lymphoma
-Most frequently found in children in the second decade of life
-Associated with Epstein-Barr and cytomegalovirus infections

-Acute abdomen:
abdominal pain
distention
fullness
constipation
-Nontender lymph node enlargement
-NHLs often present as intrathoracic tumors, CNS tumors, or in the bone marrow

-The initial presentation is with advanced disease stage in approximately 70% of patients
-Three associated presentations include:
superior or inferior vena cava obstruction
acute paraplegias due to spinal cord or CNS compression tumor lysis syndrome

-CBC, LDH, uric acid, electrolytes:
CBC may reveal unexplained anemia, thrombocytopenia, or leukopenia due to bone marrow infiltration
elevated electrolytes and LDH may indicate tumor lysis syndromes
-EBV titers
-Chest radiography, CT, MRI, or PET scan of the area in question to determine the presence of:
masses and/or lymphadenopathy in the neck, chest, or abdomen.
-Disease must be staged prior to treatment initiation

-As you develop a management plan for patients with leukemia, keep in mind that 85% of children with lymphoma have a 5-year survival rate
-Lymphomas respond well to chemotherapy
-Radiation therapy is not common in treatment for pediatric lymphoma
-Management must include a multidisciplinary approach beginning at diagnosis
-It also includes referral to a comprehensive pediatric oncology center

-Malignancy of reticuloendothelial and lymphatic systems and involves the B cells
-It originates in a cervical lymph node and spreads to other lymph node regions
-Untreated, it will spread to other organ systems including the liver, spleen, bone, bone marrow, and brain, although involvement of the bone marrow and CNS is rare
-Rare for kids <15 years

-Painless enlargement of the lymph nodes, usually in the cervical area. The nodes may feel rubbery and firm and may be matted together
-Chronic cough if the trachea is compressed by a large mediastinal mass.
-Fever, decreased appetite, weight loss of 10% within 6 months, and drenching night sweats.

-Anemia with elevated or depressed leukocytes or platelets
-Elevated sedimentation rate and CRP
-Elevated copper, ferritin
-Abnormal liver function tests
-Urinalysis showing Proteinuria
-Chest radiography, ultrasound, CT, MRI, or PET scan

-Treatment at a comprehensive pediatric oncology center.
-Multiple treatment agents are best to allow different mechanisms in order to avoid overlapping toxicities
-The PCP should collaborate with oncology specialists
-There is possible infertility for those who receive high-dose alkylators, therefore males may consider sperm banking prior to starting treatment

-There are high rates of chronic medical conditions in children who survive Hodgkin lymphoma, including the development of secondary malignancy later in life
-Typically, it is thyroid, breast, nonmelanoma skin cancer, NHL, or acute leukemia
-Because of this, it is crucial that the child with lymphoma receive long-term monitoring through a pediatric oncology center

-Infertility/early menopause due to:
alkylating agents
-Short stature due to:
cranial radiation and chemo
-Precocious puberty due to:
cranial, neck or mandible radiation
-Altered pubertal developments due to:
alkylating agents given during puberty to girl

-Avascular necrosis of bone due to:
steroids and local radiation
-Osteoporosis due to:
cranial radiation, steroids and antimetabolites

-Leukoencephalopathy due to:
cranial irradiation, methotrexate and steroids
-Peripheral neuropathy and hearing loss due to:
cisplatin
-Cognitive dysfunction, stroke, or seizures due to:
intrathecal chemotherapy and radiation
-Vision, auditory, or skeletal changes due to:
head/neck radiation
-Psychosocial effects

-Obesity andgonadal dysfunction due to:
neuroendocrine effect
-Cystitis and bladder dysfunction due to:
chemotherapy
-Glomerular/tubular injury
cisplatin

-Cardiomyopathy due to:
anthracyclines (avoid drinking and smoking)
-Pericardial effusion, constrictive pericarditis and late coronary artery disease due to:
radiation
-Pneumonitis, pulmonary fibrosis due to:
radiation and chemotherapy

-Malignant glioma due to:
cranial and musculoskeletal radiation
-Secondary leukemias due to:
alkylating agents and radiation
-Cancer relapse

-Difficulty swallowing
-In connection with the three phases of swallowing:
oral phase
pharyngeal phase
esophageal phase

-Structural defects:
esophageal narrowing
extrinsic obstruction
-Nonstructural defects (uncommon):
motility disorders of the oropharynx/esophagus
prematurity/neurologic impairment from CP or other disorders
mucosal injury
GERD
eosinophilic esophagitis.

-Progressive dysfunction
-Persistent drooling/cough
-Discomfort
-Picky eating/food refusal
-Preferring liquids to solids
-Heartburn
-Halitosis
-Chest pain

-Observe feeding while paying attention to the adequacy of the child's oral motor skills
-Perform a complete physical exam, paying attention to the mouth, throat, and neck

-Lateral neck films
-Barium swallow:
usually the first test performed to identify structural narrowing
-Fiberoptic endoscopy
-Videofluoroscopy
-Manometry:
gold standard for diagnosing motor disorders
-MRI:
identifies structural disorders
-Electromyography

-Management strategies of dysphagia include evaluation of cognitive, developmental, and behavioral issues
-A multidisciplinary approach is recommended:
otolaryngology
gastroenterology
nutrition
occupational therapy
psychology
speech language pathology

-Uncommon idiopathic disorder that in its most classic form is characterized by recurrent, sudden onset attacks of repeated retching and vomiting, separated by symptom-free intervals of weeks to month
-Idiopathic disorder and a diagnosis of exclusion
-Associated with other autonomic nervous system problems (migraines)
-Occurs in 3 phases: episode-prodrome, vomiting phase, and recovery phase

-The occurrence of vomiting must be two or more periods of intense and remitting nausea and paroxysmal vomiting lasting hours to days within a six-month period
-Episodes are stereotypical in each patient
-Episodes are separated by weeks to months with a return to baseline health between the episodes and after a full evaluation is done, there isn't another condition underlying

-Five attacks in any amount of time or three attacks in six months, episodic attacks of intense nausea and vomiting that lasted an hour or up to 10 days
-Vomiting during the attacks can be four times in an hour or for a solid hour
-The child returns to their usual state of health in-between the attacks

-Physical examination is typically normal
-Family history of migraines
-Brief prodromal period:
pallor
anorexia
nausea
abdominal pain
lethargy
-Recovery period:
from ill to playing again
-Intense nausea not relieved by vomiting

-Episodes that begin and end abruptly
-Most common in ages 2-7
-Episodes occur early in the morning (3am-4am) or on awakening
-Identiful trigger (physical, physiological or food):
stress
infection
lack of sleep
school-related
holidays
chocolate
cheese
monosodium glutamate (MSGs)

-Vomiting diary
-Screening labs during a vomiting episode can help exclude other diagnoses
-Electrolytes including HCO3
-Upper GI to exclude malrotation
-Abdominal ultrasound to exclude transient hydronephrosis
-Rule out Addison disease and fatty acid oxidation if hyponatremia or hypoglycemia is present

-No definite treatment
-Treatment is usually guided by patient family history, physical examination and diagnostic studies
-Begins with lifestyle changes
-Trial of therapy is targeted at prophylaxis during the well phase or at acute and supportive measures during the vomiting and recovery phase
-Consider the child's clinical course, frequency and severity of attacks and resultant morbidity directs the treatment plan

-Lifestyle modification
-Avoiding triggers
-Stress reduction
-Prophylactic medication if modifications fail or if episodes are frequent and/or severe
-Doses can be titrated every 1-4 weeks to achieve therapeutic dose for at least 2 cycles

-Cyproheptadine 0.25-0.5 mg/kg/day BID or TID
-Max dosage is 12 mg/24hr

-Amitriptyline (first line) 0.1-0.25 mg/kg at bedtime
-Increased weekly by 0.1-0.25 until max dose of 2 mg/kg/24hr or 75 mg/24hr
-For doses >1 mg/kg/24hr:
divide dose BID
monitor ECG before starting and 10 days after
-Propranolol (second line) 0.25-1 mg/kg/day
<35 kg: 10-20 mg PO TID
>35 kg: 20-40 mg PO TID
taper when discontinuing

-Want to begin therapy within 2-4 hours of the onset of symptoms (supportive and pharmacology)
-Antimigraine (triptans) in children >12 years with infrequent and /or mild episodes (<1 per month)
-Zofran
-Lorazepam with Zofran for unrelenting nausea and vomiting can be used to induce sleep
-Histamine 2 receptor agonist, as well as proton pump inhibitors because most end up having some element of gastritis or esophagitis

-Zofran PO tablet (4mg to 8mg), disintegrating (4mg to 8mg) or liquid (4mg/5mL)
-8-15 kg: 2mg x1
->15kg and <30kg: 4mg x 1
->30kg: 8mg x 1

-Dehydration
-Electrolyte derangement
-Metabolic acidosis
-Hematemesis
-Weight loss
-Gastritis

-Continuum of migraine/cyclic vomiting
-It is seen more often in children than adults
-It is also more common in girls than boys and has a mean onset of 7 years old

-Rome criteria for functional migraine
-Family history of migraine/motion sickness
-History of motion sickness
-Episodes can last from 1 hour up to hours/days
-Aura not frequent
-Headache absent/minimal
-Prodrome of fatigue/drowsiness

-Diagnosis of an abdominal migraine must include all of the following, occurring twice per week for 6 months or greater before diagnosis:
-Paroxysmal episodes of intense periumbilical pain lasting 1-72 hours, classified as the most severe and distressing syndrome.
-Intervening periods of usual health (weeks-months)
-Pain interfering with normal activities

-Pain associated with ⋝2 of: nausea, vomiting, anorexia, headache, photophobia, pallor
-Symptoms not explained by another medical condition, including inflammatory, anatomic, metabolic, and neoplastic processes
-Symptoms present two or more times in the preceding 12 months

-Abdominal signs (bilious vomiting, abdominal tenderness, hematemesis)
-Triggering events (fastings, high-protein meal or incurrent illness)
-Abnormal neurologic examination (severely altered mental status, abnormal eye movement, papilledema, motor asymmetry, gait abnormality)
-Progressively worsening episodes or conversion to a continuous or chronic pattern

-Management for children with abdominal migraine should include identification and avoidance of triggers, such as:
caffeine, nitrates, amine-containing foods
prolonged fasting
excessive emotional stress
travel
altered sleep
flickering or glaring lights
-Advise that sleep may relieve symptoms
-Recommend antiemetics to abort an attack
-Pursue migraine prophylactic therapy

-Chronic clinical pathologic disease
-Esophageal dysfunction symptoms
-Can occur at any age
-Leading cause of dysphagia in children and young adults
-Esophageal inflammation occurring in individuals with genetic predisposition
-Combines an esophageal epithelia dysfunction and an abnormal T-helper cell
-type 2 (Th2)-mediated immune response to environmental allergens
-leads to esophageal lesion and dysmotility, secondary remodeling and fibrosis

-EGD biopsies show an eosinophil count of >15 Eos/HPF
-Infancy:
food refusal
failure to thrive
GERD

-Childhood:
dysphagia
vomiting
heartburn
feeding refusal
-Adolescence:
dysphagia
food impaction
heart burn
GERD

1. PPI:
easy
no side effects
2. Steroids:
easy
rare side effects
3. Diet Elimination:
complex
more foods eliminated more effective
milk, soy, eggs, wheat, nuts, and fish

1. PPI:
yes- continue treatment and follow-up in 1-3 years with a scope
no- add steroids or start diet
2. Steroids:
yes- continue treatment and follow-up in 1-3 years with a scope
no- short course of oral steroids or start PPI or start diet
3. Diet:
yes- add food and follow up scope
no- add PPI or eliminate more foods or start steroids

-Omeprazole 1 mg/kg BID (max 20-40 mg)
-Lansoprazole 1 mg/kg BID (max 60 mg)
-Esomeprazole1 mg/kg QD (max 40 mg)
-Pantoprazole
< 10 years of age: 1 mg/kg
> 10 years of age: 20 mg QD (max 40 mg)

-Topical steroids:
Swallowed, inhaled fluticasone
Propionate 88-440 μg BID-QID (max 880-1760 μg)
Oral viscous budesonide
< 10 years of age: 0.5 mg BID (max 4 mg) > 10 years of age: 1 mg BID (max 4 mg)
-Systemic steroids:
Prednisone

-Group of gastric and duodenal disorders ranging from gastritis to ulcerations
-Classified as primary or secondary
-Primary ulcers:
duodenal
have no underlying disease
-Secondary ulcers:
gastric
more acute and associated with known ulcergenic events

-Younger children:
irritability, poor feeding, vomiting, reflux, GI bleeding, or poor weight gain
-Older children:
dull or diffuse abdominal pain, gas, bloating, nausea, or even waking at night from their belly pain
-Pain that happens immediately after a meal is indicative of a gastric ulcer
-Duodenal ulcers, however, generally present with pain that is 2-3 hours after a meal

-Endoscopy: gold standard but is not always needed
-For mild peptic ulcer disease:
CBC
albumin
ESR
stool for guaiac
H. pylori is also a validated diagnostic test.

-Identify any offending agents and treat the underlying causes
-Histamine-2 receptor agents and proton pump inhibitors should be our first option
-Current guidelines do support the use of both a proton pump inhibitor and antibiotic therapy for H. pylori confirmed peptic ulcer disease

-Lack of improvement or inability to wean off the medications that you have started
-If the child presents again with any hematemesis, melena, ongoing or chronic anemia, or weight loss, this should be another consideration for referral to gastroenterology

-Most common pain complaint for preschoolers
-The peak onset occurs between 7 and 12 years old
-It refers to recurrent abdominal pain with no specific organic etiology

-FAP once per week for at least two months
-Episodic or continuous abdominal pain
-Insufficient criteria for other disorders, such as irritable bowel syndrome, functional dyspepsia, or abdominal migraine
-No evidence of inflammatory, anatomic, metabolic, or neoplastic process

-Complete review of systems
-Parental history of FAP
-Psychosocial history
-Associated symptoms
-Comorbidity of anxiety/depression

-Careful assessment of growth parameters
-Abdominal examination
-Perianal and rectal examination
-Neurologic examination
-Pelvic examination if indicated
-Skin and joints
-Alarm symptoms

-Localization of the pain away from the umbilicus, especially right or left quadrant
-Pain associated with a change in bowel habits, particularly chronic, severe diarrhea; constipation, or nocturnal bowel movements
-Pain associated with night wakening
-Repetitive, significant emesis, especially if bilious
-Constitutional symptoms, such as recurrent fever, loss of appetite or energy
-Recurrent abdominal pain occurring in a child younger than 4 years old
-Blood in stool or emesis

-Unexplained fever
-Unintentional weight loss or decline in height velocity
-Organomegaly
-Localized abdominal tenderness, particularly removed from the umbilicus
-Perirectal abnormalities (fissures, ulcerations, or skin tags)

-Joint swelling, redness, heat, or discoloration
-Ventral hernias of the abdominal wall
-Report of pain with dramatic reaction
-Symptoms worse in morning
-Pain medications do not alleviate pain
-Illicit drug use, sexual activity

-Reserve testing if alarm symptoms are present:
CBC, ESR, CRP, UA, HP, serum IgA, IgG, iTg, US, endoscopy, and esophageal pH.
-After performing a complete history and physical, the initial approach to diagnostic studies includes:
CBC, ESR, amylase, lipase, UA, abdominal US
three-day trial of lactose-free diet
further testing not needed if results are negative
fecal calprotectin assay if changes in stool habits

-Management starts with establishing a therapeutic parent-child-practitioner relationship
-Identify, treat, and refer for significant psychological issues
-Explain brain-gut interaction
-Discuss alarm symptoms
-Advise to use medications judiciously

-Encourage return to school and normal activities
-Consider complementary and alternative (CAM) approaches.
-Explore psychological triggers
-With appropriate management, pain resolves completely for 30-50% of FAP patients within 6 weeks

-The most common form of functional abdominal pain in the Western world
-Its etiology is unclear
-IBS is a functional GI disorder that involves chronic or FAP with altered bowel habits or bloating
-It is associated with a psychological comorbidity

-At least once/week for at least 2 months
-Abdominal discomfort associated with ⋝2 of the following ⋝25% of the time:
pain improves with defecation
change in frequency/form of stool
no evidence of inflammatory, anatomic, metabolic, or neoplastic process

-Rome criteria
-Abnormal stool frequency (>4/day or <2/week)
-Abnormal stool form (watery or hard)
-Abnormal stool passage (straining, urgency)
-Passage of mucus

-Bloating/distension
-Dyspepsia
-Potential triggering event/psychosocial factors
-Family history of IBS
-Psychosocial history
-Nutrition history

-Confirmation of diagnosis and family explanation
-Modifying the severity of symptoms
-Antidepressants are not widely used in children
-Goals include improving quality of life: dietary changes, probiotics, drug therapy, and biopsychosocial therapy

-Dysregulated immune responses of intestinal mucosa to microbes in those individuals who are genetically susceptible -The three types of inflammatory bowel disease are:
Crohn's Disease
ulcerative colitis
inflammatory bowel disease unclassified (IBD unclassified)

-Dysregulated inflammation and cytokine production in the intestinal tract
-It may be found in any part of the GI tract, with the terminal ileum and colon being the most common location
-Inflammation is usually transmural, causing fissures and fistulas
-It is thought to result from an environmental exposure triggering an abnormal immune reaction in a person with a genetic predisposition
-Peaks in late adolescence and early adulthood

Unaffected areas of the intestine in a patient with Crohn's disease

-Fever, weight loss
-Delayed growth velocity, short stature, and delayed bone age
-Arthralgias/arthritis in large joints
-Obstructive symptoms associated with meals, bloating, and early satiety
-Pain in umbilical region and RLQ, may awaken in the night

-Anorexia
-Malabsorption and lactose intolerance
-Diarrhea, pain with stooling
-Jaundice
-Oral aphthous ulcers

-Close monitoring of growth parameters
-Abdominal exam evaluating carefully for RLQ tenderness and a mass
-Assess for perianal skin tags, deep anal fissures, and perianal fistulas
-Clubbing of digits may be present due to mucosal inflammatory changes
-Erythema nodosum is common

-Ileocolonoscopy is an expected first step for work-up for Crohn's disease
-Inflammatory markers such as ESR and CRP
-Nutritional labs such as albumin, total protein, iron panel, calcium, zinc, alkaline phosphatase, folate, and B12
-CBC, liver enzymes

-A stool O&P, culture, fecal alpha 1-antitrypsin, fecal calprotectin assay are also recommended for any child with recurrent abdominal pain and changes in bowel movements
-You may also include radiographs such as bone age (which usually reveals delayed growth by two years), bone density, and abdominal films
-An esophagoscopy is recommended for children diagnosed with Crohn's disease who have perianal disease

-Disease control, relapse prevention, and achievement of normal nutrition, growth, and lifestyle
-Refer to a pediatric gastroenterologist for a colonoscopy, endoscopy, diagnosis confirmation, consultation, and follow-up care
-In cases of severe disease, patients may need hospitalization, TPN, and possible surgery

-Corticosteroid management is the most common management strategy in the United States
-Other medications used for the management of Crohn's disease include:
5-Aminosalicylates
immunomodulator agents
biologic agents
antibiotics for acute infections
growth hormone may be used as adjunctive therapy

-Close monitoring of growth, pubertal changes.
-Ophthalmologic exam to rule out underlying ophthalmologic manifestations
-Nutritional counseling during remission to correct or prevent malnutrition and promote growth
-Encourage participation in social activities such as exercise and Crohn's disease support camps

-Knowledge of recommended therapies to prevent the sequelae
-Parents should be counseled that the disease is progressive, there is no cure and the patients have remissions
-Childhood-onset is usually more severe and requires more immunosuppressant therapy than adult-onset disease

-Intestinal obstruction and scarring
-Growth failure
-Fistulas and abscesses
-Primary sclerosing cholangitis
-Pancreatitis
-Pericarditis
-Arthritis and peripheral neuropathy
-Increased risk for: lymphoma, colon cancer, and opportunistic infection

-Chronic disease with diffuse inflammation of the rectal and colonic mucosa
-Ninety-five percent of cases with ulcerative colitis involve the rectum
-The etiology of ulcerative colitis is unknown but is thought to be multifactorial, including genetics, diet, environment, immunologic, and ineffective mucosal integrity

-Fever
-Weight loss
-Delayed growth/sexual maturation
-Anorexia
-Diarrhea
-Lower abdominal cramping
-Pain increased before stooling/flatus

-Bright red blood/mucus in stool
-Nocturnal stooling
-Oral aphthous ulcers
-Skin lesions:
erythema nodosum
pyoderma gangrenosum
diffuse papulonecrotic eruptions

-An examination that includes close monitoring of growth parameters
-A complete physical exam
-Possible abdominal rebound tenderness depending on disease severity

-CBC, iron-binding capacity, total protein, albumin, ESR, CRP.
-Stool for WBC, blood, and culture
-Bloody diarrhea with negative stool culture is a characteristic finding in ulcerative colitis
-A bone age x-ray may reveal delays up to two years.
-A colonoscopy may show diffuse mucosal inflammation
-Perinuclear neutrophil cytoplasmic antigen test is positive in approximately ⅔ of cases
-Fecal calprotectin assay

-Control the disease, prevent relapse, and achieve normal nutrition, growth and lifestyle
-Patients should be referred for a colonoscopy, diagnosis confirmation, consultation, and follow-up care
-Surgery may be indicated and includes a complete proctocolectomy which is curative
-Patients may need psychological evaluation as there is a correlation with depressive disorders

-Patients with ulcerative colitis should have an ophthalmologic evaluation to rule out ophthalmologic manifestations of ulcerative colitis
-Ensure that patient is up to date on vaccines
-Patients with ulcerative colitis should have their growth closely monitored

-Pharmacologic treatment strategies are complex and individualized and may include the following:
-Mild-moderate cases:
topical mesalamine is a superior first-line agent
oral 5-ASAs
topical steroids
-Moderate-severe cases:
systemic steroids

-Biologic agents for induction of remission and maintenance in steroid-refractory and moderate to severe disease
-Hydrocortisone rectal for tenesmus
-Cyclosporin monotherapy for initial treatment of fulminating disease
-Probiotics as adjunctive therapy
-Curcumin to maintain inactive disease
-Iron supplementation to correct anemia

-Nutritional management includes a diet that is high in protein and carbohydrates, normal fat, and decreased roughage
-Referrals to nutritional therapy may be needed to prevent or correct malnutrition and promote growth

-Growth failure
-Toxic megacolon intestinal perforation
-Liver disease
-Sepsis
-Colon cancer
-Arthritis
-Uveitis
-Malnutrition
-Behavior problems

-Defined as loose stools of >10 mL/kg/day in infants and >200 grams/day in older children
-It is also called persistent or prolonged diarrhea
-It is a result of intraluminal factors that influence digestion, or mucosal factors that influence digestion and transport of nutrients across the mucosa

-Patients with chronic diarrhea often present with >3 watery stools/day for more than 2 weeks
-Patients with 10 watery stools per day containing undigested food particles are thought to have "toddler's diarrhea."

-Hydration status
-Weight/height growth retardation, including any weight loss
-Skin and hair condition, color of skin and conjunctivae
-Vital signs, specifically heart rate and blood pressure
-Thyroid enlargement
-Respiratory symptoms
-Teething

-Clubbing of fingers
-Exposure to illness
-Recent travel
-Abdominal examination and rectal examination for:
skin tags
impaction
tenderness

-Hematochezia/melena
-Persistent fever
-Weight loss
-Anemia

-Stool:
culture
O&P (best done on 3 specimens on separate days)
pH
reducing substances
occult blood
leukocytes
fat/fecal elastase

-CBC, electrolytes, albumin
-UA culture in young children
-Virl serologies (HIV or CMV)

-Management of chronic diarrhea includes treating the underlying cause of the diarrhea
-Management of toddler's diarrhea includes:
normalizing the diet
removing the offending fluids or foods
eliminating sorbitol and fructose
reducing fluid intake to <90 ml/kg/day
-Carbohydrate malabsorption is managed by decreasing lactose or sucrose
-Infants with postgastroenteritis malabsorption syndrome may require predigested formula for 3-4 weeks following illness

-Newborns with diarrhea in the first few hours of life
-Patients with growth delay or failure
-Patients with abnormal physical findings such as anorexia, abdominal pain, chronic bloating, vomiting, or weakness, or -patients with severe illness

-Causes:
celiac disease
lactose intolerance
cow's milk allergy
Food Protein-Induced Enterocolitis (FPIES)
-Malabsorption syndromes are caused by different genetic, congenital, and acquired conditions
-They usually lead to an initial decrease in weight followed by a deceleration in height velocity

-Growth failure, delayed puberty
-Voracious appetite or particular food avoidance
-Chronic diarrhea, excessive flatus, distension
-Pallor, fatigue
-Hair and skin abnormalities
-Clubbing
-Dizziness
-Cheilosis, glossitis
-Peripheral neuropathy

-Thorough history, including a complete dietary history
-Monitoring growth
-Monitoring skinfold thickness
-Lean body mass
-The PCP should monitor for delayed growth, puberty, or Tanner staging as well

-Stool for occult blood, WBCs, culture, pH, reducing substances
-Alpha 1-antitrypsin level
-Sweat chloride test to rule out CF
-Stool for O&P
-CBC, calcium, phosphorus, magnesium, alkaline phosphatase, protein, LFTs, vitamin levels
-Small bowel biopsy
-Abdominal radiographs, US
-Bone age

-Immune-mediated and triggered by exposure to gluten, barley, or rye
-It frequently coexists with other autoimmune diseases
-It is thought to be associated with changes in demographics, such as immigration from developing to developed countries

-FTT
-Iron-deficiency anemia
-Abdominal distension

-Serologic testing
-If positive, the patient should be referred for endoscopy with a biopsy for confirmatory diagnosis