Neonatal jaundice             anda primer of metabolic diseases      Dr. Manoj K Ghoda       Gastroenterologist         Ah...
Neonatal jaundice• 60% of term babies have jaundice• 80% of preterm babies have jaundice
Neonatal jaundiceRisk factors for developing neonatal jaundice• Prematurity• Breast feeding: three times more likely to oc...
Neonatal jaundice        What is a non-physiological jaundice ?•   Jaundice detected within 24 hours•   If bilirubin rise ...
Neonatal jaundiceA 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...
Neonatal jaundiceHis liver was just palpableHis 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 Gh...
Neonatal jaundice      Type of hyperbilirubinemia• Conjugated,• Unconjugated                             Dr. Manoj K Ghoda
Neonatal jaundice   Unconjugated Hyperbilirubinemia• Without hemolysis?• With hemolysis?                           Dr. Man...
Neonatal jaundice     Unconjugated hyperbilirubinemia• Without hemolysis    • Prematurity    • Breast milk jaundice    • C...
Neonatal jaundice      Pattern of enzyme rise• Hepatitic,    or• Cholestatic                               Dr. Manoj K Ghoda
Neonatal jaundice    Status of critical liver functions• Compensated      or• decompensated                               ...
Neonatal jaundice        Conjugated Hyperbilirubinemia• Without early decompensation    •   EHBA    •   Toxoplasma    •   ...
Neonatal jaundice      Conjugated Hyperbilirubinemia• With early decompensation    • Galactosemia    • Urea cycle defects ...
Neonatal jaundice• Significant Hepatomegaly?• Significant Hepatosplenomegaly?                              Dr. Manoj K Ghoda
Neonatal jaundice• Associated musculoskeletal defects?• Associated cardiac defects?• Associated pulmonary defects?        ...
Prominent Hypoglycemia?• GSD• FAO
Neonatal jaundice           Investigations• CBC,Indices, retics, peripheral smear• Bilirubin, SGPT,ALP, GGT, PT, Proteins•...
Neonatal jaundiceInvestigating a case of Neonatal  Jaundice     Conjugated Hyperbilirubinemia• TORCH• Neonatal TSH• Total ...
Neonatal jaundice    Conjugated Hyperbilirubinemia• Urine routine and micro• Urine for metabolic screening including  redu...
Neonatal jaundiceInvestigating a case of Neonatal  Jaundice      Conjugated Hyperbilirubinemia• USG on empty stomach looki...
Neonatal jaundiceInvestigating a case of Neonatal Jaundice    Conjugated Hyperbilirubinemia• Liver biopsy• HIDA scan      ...
Neonatal jaundice               Treatment•   Glucose, oral or IV•   Stop Galactose as soon as the sample    is taken•   Bl...
Neonatal jaundice                Galactosemia• Prevalent in local population• Can cause both unconjugated and conjugated  ...
Neonatal jaundice         Mucopolysaccharidosis• Locally prevalent• Dysmorphism is not always present• Hepatosplenomegaly ...
Neonatal jaundice             Urea cycle defects•   Prevalent locally•   Recurrent unexplained vomiting•   Respiratory alk...
Neonatal jaundice     Hereditary fructose intolerance• Jaundice, hepatomegaly, vomiting, lethargy,  irritability, and conv...
Neonatal jaundice              and a primer of metabolic diseases                 Conclusion ?• All pediatricians are capa...
Neonatal jaundice              and a primer of metabolic diseasesI want all of you and your colleagues to  join in this “Y...
Neonatal jaundice              and a primer of metabolic diseasesI thank all friends, Dr. Jani and Dr. Anil   Ved         ...
Guidelines for hyperbilirubinemiaAge     Consider Give    Consider   Give        photo    photo   exchang    exchang      ...
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Neonatal jaundice and primer of metabolic diseases

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