NEONATAL JAUNDICE
DEFINITION:
A disorder caused by an excess of unconjugated or conjugated
bilirubin in the newborn period.
EPIDEMIOLOGY:
- incidence: ?
- age of onset:
- risk factors:
- see differential diagnosis
DIFFERENTIAL DIAGNOSIS FOR UNCONJUGATED HYPERBILIRUBINEMIA:
DIFFERENTIAL DIAGNOSIS OF CONJUGATED HYPERBILIRUBINEMIA:
1. Intrahepatic Cholestasis
1. Persistent
- Alagille Syndrome (arteriohepatic dysplasia)
- Benign Recurrent Intrahepatic Cholestasis
- Byler Disease
- Cholestasis - Lymphedema
- Neonatal Hepatitis
- NSP of Interlobular Bile Ducts
2. Acquired
- Infections
- Toxoplasmosis
- Others - Echovirus, Leptospirosis, Syphilis, TB,
- Varicella
- Rubella
- CMV, Coxsackievirus
- Hepatitis B (?C), HSV
- Drug-Induced
3. Metabolic/Genetic Disorders
- Alpha-1-Antitrypsin Deficiency
- Cystic Fibrosis
- Dubin-Johnson Syndrome
- Familial Hepatosteatosis
- Rotor Syndrome
- Trihydroxycoprostanic Acidemia
- Zellweger's Syndrome
- Trisomies 18 and 21
2. Extrahepatic Obstruction
1. Infantile Obstructive Cholangiopathy
- Biliary Atresia
- Bile Plug Syndrome
- Choledochal Cyst
- Choledocholithiasis
- extrinsic bile duct compression
- spontaneous bile duct perforation
3. Metabolic Disorders
1. Disorders of Carbohydrate Metabolism
- Hereditary Fructose Intolerance
- Galactosemia-I+III
- Glycogen Storage Diseases - Types I,III,IV,VI,IX
2. Disorders of Amino Acid Metabolism
3. Disorders of Lipid Metabolism
- Gaucher Disease
- Niemann-Pick Disease
- Wolman Disease
- Cholesteryl Ester Storage Disease
PATHOPHYSIOLOGY:
1. Bilirubin Metabolism:
- end product of heme degradation
- majority derived from RBC's
- 8-10 mg/kg/day produced
- 1g Hb = 35 mg bilirubin
- two types:
- unconjugated (indirect) - prehepatic, enterohepatic
- conjugated (direct) - hepatic
2. Physiological Jaundice:
1. Elevated Bilirubin Load
- increased RBC volume
- decreased RBC survival
- increased enterohepatic circulation
2. Decreased Hepatic Uptake of Bilirubin
- low level of ligandin
- competition for binding to intracellular proteins
3. Defective Bilirubin Conjugation
- decreased UDP glucuronyl transferase activity
4. Defective Bilirubin Excretion
3. Non-Physiological Jaundice:
- see differential diagnosis
CLINICAL FEATURES:
1. Physiologic Jaundice
1. Features
- appears on Day 2
- peaks on Days 2-5
- disappears after Day 7 (term infants)
- disappears after Day 14 (premature infants)
- of term babies:
- 60% are jaundiced within the first week
- 95% have a bilirubin < 260 umol/L
- visible jaundice occurs at levels > 85 umol/L
2. Non-Physiologic Jaundice
1. Features
- within 24 hours
- total bilirubin > 225 umol/L
- direct bilirubin > 35 umol/L or > 30-40% of total
- rate of rise > 85 umol/L in a 24 hour period
- persists > 7 days (term) or > 14 days (preterm)
3. Approach
1. History
1. Maternal History
- blood type
- past obstetrical history
- abortions (spontaneous or induced)
- jaundiced sibs
- past medical history
- family history
- inborn errors of metabolism, cystic fibrosis
- congenital hepatic diseases
- congenital hemolytic anemia
- jaundice, anemia, splenectomy, gallbladder disease
2. Pregnancy History
- complications
- infections (TORCH), illnesses, PIH, GDM
- sepsis - premie, fever, increased WBC, PROM,
amnionitis, etc
3. Labour and Delivery History
- gestational age - ? premie
- method of delivery - ? traumatic
- APGAR or cord gases - ? birth asphyxia
- ingestion of maternal blood
- delayed cord clamping
4. Post Natal History
- characteristics of jaundice - ? onset, duration, etc.
- method of feeding - ? breast milk jaundice
- infants blood group - ? Rh or ABO incompatability
- evidence of underlying illness:
- delayed passage of meconium, nausea/vomiting, sepsis,
- failure to thrive, decreased caloric/fluid intake
2. Physical
1. Vitals
- temperature (sepsis)
- weight/length (SGA, LGA)
- head circumferance (decreased size with TORCH
infections)
2. HEENT
3. Gastrointestinal
- hepatosplenomegaly (hemolytic anemia, congenital
infections, inborn errors of metabolism)
- mass/distention (obstruction, adrenal hematoma)
4. Skin
- plethoric (polycythemia)
- pallor (anemia)
- petchechiae (sepsis, congenital infections, severe
hemolytic anemia)
INVESTIGATIONS:
1. First Line
- bilirubin (total and direct)
- blood groups and Rh (mother and infant)
- CBC (Hct, Hb, Platelets)
- Coombs test
- peripheral blood smear/morphology
- reticulocyte count
2. Second Line
- septic work-up
- cultures (blood, CSF, urine), chest x-ray
- screen for hypothyroidism
- screen for inborn errors of metabolism
- urine for organic and amino acids
- plasma for amino acids
- alkaline denaturation of Hb test of emesis
- - PT, PTT, haemoglobin electrophoresis
MANAGEMENT:
1. Alter Feeding
- interrupt breast-feeding
- stimulate enterohepatic circulation
2. Phototherapy
- based on birth weight and age of patient
- white or blue lights, single or double bank
- principle: photoisomerization
3. Exchange Transfusion
- direct removal of bilirubin
4. Medications
- phenobarbital trial to induce glucuronyl transferase
activity
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