neonatal jaundice and primer of metabolic diseases
TRANSCRIPT
Neonatal jaundice and
a primer of metabolic diseases
Dr. Manoj K Ghoda
GastroenterologistAhmedabad.
Neonatal jaundice
• 60% of term babies have jaundice
• 80% of preterm babies have jaundice
Neonatal jaundice
Risk factors for developing neonatal jaundice
• Prematurity• Breast feeding: three times more likely to occur in
breast-fed than in formula-fed infants, and progression to severe hyperbilirubinemia is six times more likely.
• Newborn infants with a sibling who had jaundice are at increased risk
• Boys are also at increased risk.
Neonatal jaundice
What is a non-physiological jaundice ?• Jaundice detected within 24 hours• If bilirubin rise at a rate of >0.5 mg/dL per hour
or 5 mg/dL per day, • If total bilirubin exceed 15 mg/dL in a full-term
infant or 10 mg/dL in a preterm infant, • If evidence of acute hemolysis, or • If Hyperbilirubinemia persists beyond 10 days in
a full-term infant or 21 days in a preterm infant.
Neonatal jaundice
A child was referred for Jaundice.
His bilirubin was 11mg.
Dr. Manoj K Ghoda
Neonatal jaundice
• An 11 month old child was referred for• Jaundice.• Twin also affected• From the age of 5 months• His bilirubin was 11mg. (conjugated=9mg.)
• His SGPT was 346• His ALP was 1178• His GGT was 746• PT 21/13 sec.• Albumin was 3.4g/dl
Dr. Manoj K Ghoda
Neonatal jaundice
His liver was just palpable
His spleen was not palpable
Dr. Manoj K Ghoda
Neonatal jaundice
• Genetic probing
• Pregnancy history
Dr. Manoj K Ghoda
Neonatal jaundice
Age of onset
• Early Infancy
• Late infancy
• Childhood
Dr. Manoj K Ghoda
Neonatal jaundice
Type of hyperbilirubinemia
• Conjugated,
• Unconjugated
Dr. Manoj K Ghoda
Neonatal jaundice
Unconjugated Hyperbilirubinemia
• Without hemolysis?
• With hemolysis?
Dr. Manoj K Ghoda
Neonatal jaundice
Unconjugated hyperbilirubinemia
• Without hemolysis• Prematurity• Breast milk jaundice• Criggler-Najjar syndrome• Neonatal hypothyroidism• Galactosemia
Dr. Manoj K Ghoda
Neonatal jaundice
Pattern of enzyme rise
• Hepatitic,
or
• Cholestatic
Dr. Manoj K Ghoda
Neonatal jaundice
Status of critical liver functions
• Compensated
or
• decompensated
Dr. Manoj K Ghoda
Neonatal jaundice
Conjugated Hyperbilirubinemia
• Without early decompensation• EHBA• Toxoplasma• Rubella• Idiopathic NIH• Storage disorders• Cholestatic syndromes
Dr. Manoj K Ghoda
Neonatal jaundice
Conjugated Hyperbilirubinemia
• With early decompensation• Galactosemia• Urea cycle defects• Fatty oxidation defects• Hepatorenal tyrosinemia• Hereditary fructose intolerance
Dr. Manoj K Ghoda
Neonatal jaundice
• Significant Hepatomegaly?
• Significant Hepatosplenomegaly?
Dr. Manoj K Ghoda
Neonatal jaundice
• Associated musculoskeletal defects?
• Associated cardiac defects?
• Associated pulmonary defects?
Dr. Manoj K Ghoda
Prominent Hypoglycemia?
• GSD
• FAO
Neonatal jaundice
Investigations
• CBC,Indices, retics, peripheral smear
• Bilirubin, SGPT,ALP, GGT, PT, Proteins
• Glucose, Ammonia,
• Save serum
Neonatal jaundice
Investigating a case of Neonatal Jaundice Conjugated Hyperbilirubinemia • TORCH• Neonatal TSH• Total Galactose• Glucose• Ammonia• Save serum
Dr. Manoj K Ghoda
Neonatal jaundice
Conjugated Hyperbilirubinemia
• Urine routine and micro
• Urine for metabolic screening including reducing substances and ketones
Dr. Manoj K Ghoda
Neonatal jaundice
Investigating a case of Neonatal Jaundice Conjugated Hyperbilirubinemia
• USG on empty stomach looking for • gall bladder status, • bile duct, • IHBR, • portal vein • liver size and echo-texture and • spleen size
Dr. Manoj K Ghoda
Neonatal jaundice
Investigating a case of Neonatal Jaundice
Conjugated Hyperbilirubinemia
• Liver biopsy
• HIDA scan
Dr. Manoj K Ghoda
Neonatal jaundice
Treatment
• Glucose, oral or IV
• Stop Galactose as soon as the sample is taken
• Blind antibiotics till no evidence of infection
• Vit. K
• Phenobarbitone 3-5mg/Kg Dr. Manoj K Ghoda
Neonatal jaundice Galactosemia
• Prevalent in local population• Can cause both unconjugated and conjugated
hyperbilirubinemia• E.coli septicemia• Early decompensation• Cataract is usually not present• Reducing substances, total galactose and Beutler’s
florescence• Even a few hours fasting can give false negative
Dr. Manoj K Ghoda
Neonatal jaundice Mucopolysaccharidosis
• Locally prevalent• Dysmorphism is not always present• Hepatosplenomegaly is out of proportion to
the level of jaundice• Urinary metabolic screening could pick it up
but false positives are high
Dr. Manoj K Ghoda
Neonatal jaundice
Urea cycle defects• Prevalent locally• Recurrent unexplained vomiting• Respiratory alkalosis in neonates• Hyperammonemia and metabolic
acidosis• encephalopathy• Hepatocellular dysfunction
Dr. Manoj K Ghoda
Neonatal jaundice
Hereditary fructose intolerance
• Jaundice, hepatomegaly, vomiting, lethargy, irritability, and convulsions.
• Prolonged clotting time, hypoalbuminemia, elevation of bilirubin and transaminases, and proximal renal tubular dysfunction.
• Reducing substance in the urine during an attack.
• Prenatal diagnosis possible from either amniocentesis or chorionic villi
Dr. Manoj K Ghoda
Neonatal jaundice and
a primer of metabolic diseases Conclusion ?
• All pediatricians are capable of arriving at a broad diagnosis
• Many diseases are treatable• Many more could be found which may be
treatable• Knowledge obtained thus could be utilised in
the management of other neonatal and pediatric illnesses
Dr. Manoj K Ghoda
Neonatal jaundice and
a primer of metabolic diseases
I want all of you and your colleagues to join in this “YAGN”
Dr. Manoj K Ghoda
Neonatal jaundice and
a primer of metabolic diseases
I thank all friends, Dr. Jani and Dr. Anil Ved
AAbhar
Dr. Manoj K Ghoda
Guidelines for hyperbilirubinemia
Age Consider photo
Give photo
Consider exchange
Give exchange
24-48 hrs.
>= 12 >= 15 >= 20 >= 25
48-72 >= 15 >= 18 >= 25 >= 30
>72 >= 17 >= 20 >= 25 >= 30