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Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
Neonatal jaundice and primer of metabolic diseases
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Neonatal jaundice and primer of metabolic diseases

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  • 1. Neonatal jaundice anda primer of metabolic diseases Dr. Manoj K Ghoda Gastroenterologist Ahmedabad.
  • 2. Neonatal jaundice• 60% of term babies have jaundice• 80% of preterm babies have jaundice
  • 3. Neonatal jaundiceRisk 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.
  • 4. 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.
  • 5. Neonatal jaundiceA child was referred for Jaundice.His bilirubin was 11mg. Dr. Manoj K Ghoda
  • 6. 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
  • 7. Neonatal jaundiceHis liver was just palpableHis spleen was not palpable Dr. Manoj K Ghoda
  • 8. Neonatal jaundice• Genetic probing• Pregnancy history Dr. Manoj K Ghoda
  • 9. Neonatal jaundice Age of onset• Early Infancy• Late infancy• Childhood Dr. Manoj K Ghoda
  • 10. Neonatal jaundice Type of hyperbilirubinemia• Conjugated,• Unconjugated Dr. Manoj K Ghoda
  • 11. Neonatal jaundice Unconjugated Hyperbilirubinemia• Without hemolysis?• With hemolysis? Dr. Manoj K Ghoda
  • 12. Neonatal jaundice Unconjugated hyperbilirubinemia• Without hemolysis • Prematurity • Breast milk jaundice • Criggler-Najjar syndrome • Neonatal hypothyroidism • Galactosemia Dr. Manoj K Ghoda
  • 13. Neonatal jaundice Pattern of enzyme rise• Hepatitic, or• Cholestatic Dr. Manoj K Ghoda
  • 14. Neonatal jaundice Status of critical liver functions• Compensated or• decompensated Dr. Manoj K Ghoda
  • 15. Neonatal jaundice Conjugated Hyperbilirubinemia• Without early decompensation • EHBA • Toxoplasma • Rubella • Idiopathic NIH • Storage disorders • Cholestatic syndromes Dr. Manoj K Ghoda
  • 16. Neonatal jaundice Conjugated Hyperbilirubinemia• With early decompensation • Galactosemia • Urea cycle defects • Fatty oxidation defects • Hepatorenal tyrosinemia • Hereditary fructose intolerance Dr. Manoj K Ghoda
  • 17. Neonatal jaundice• Significant Hepatomegaly?• Significant Hepatosplenomegaly? Dr. Manoj K Ghoda
  • 18. Neonatal jaundice• Associated musculoskeletal defects?• Associated cardiac defects?• Associated pulmonary defects? Dr. Manoj K Ghoda
  • 19. Prominent Hypoglycemia?• GSD• FAO
  • 20. Neonatal jaundice Investigations• CBC,Indices, retics, peripheral smear• Bilirubin, SGPT,ALP, GGT, PT, Proteins• Glucose, Ammonia,• Save serum
  • 21. Neonatal jaundiceInvestigating a case of Neonatal Jaundice Conjugated Hyperbilirubinemia• TORCH• Neonatal TSH• Total Galactose• Glucose• Ammonia• Save serum Dr. Manoj K Ghoda
  • 22. Neonatal jaundice Conjugated Hyperbilirubinemia• Urine routine and micro• Urine for metabolic screening including reducing substances and ketones Dr. Manoj K Ghoda
  • 23. Neonatal jaundiceInvestigating 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
  • 24. Neonatal jaundiceInvestigating a case of Neonatal Jaundice Conjugated Hyperbilirubinemia• Liver biopsy• HIDA scan Dr. Manoj K Ghoda
  • 25. 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
  • 26. 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
  • 27. 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
  • 28. 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
  • 29. 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
  • 30. 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
  • 31. Neonatal jaundice and a primer of metabolic diseasesI want all of you and your colleagues to join in this “YAGN” Dr. Manoj K Ghoda
  • 32. Neonatal jaundice and a primer of metabolic diseasesI thank all friends, Dr. Jani and Dr. Anil Ved AAbhar Dr. Manoj K Ghoda
  • 33. Guidelines for hyperbilirubinemiaAge Consider Give Consider Give photo photo exchang exchang e e24-48 >= 12 >= 15 >= 20 >= 25hrs.48-72 >= 15 >= 18 >= 25 >= 30>72 >= 17 >= 20 >= 25 >= 30

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