This document discusses neonatal cholestasis, including its definition, etiology, pathophysiology, prevalence, differential diagnosis, and management. Neonatal cholestasis is defined as prolonged elevation of conjugated bilirubin beyond the first 14 days of life. It can be caused by intrahepatic or extrahepatic conditions. Evaluation involves assessing etiology through history, exam, and lab tests. Management depends on the underlying cause but may include supportive care, choleretics, bile acid binders, surgery, transplantation, or disease-specific treatments. Prognosis varies depending on the condition causing cholestasis.

1. Dr anil kumar
Second year junior resident

2. Objectives
 To know when cholestatic livr disease should be
suspected in infant who has jaundice
 How to evaluate a neonate with conjugated hyper
bilirubinemia
 To understand the differential diagnosis for neonatal
cholestasis
 To know the therapeutic management of neonates
with cholestatsis

3. Definition
 Defined biochemically as prolonged elevation of the
serum levels of conjugated bilirubin beyond the first 14
days of life

4.  Cholestasis is defined as diminished bile formation or
flow and is manifested by abnormal conjugated
hyperbilirubinemia
 CB >1 mg/dl ,if the total blirubin is <5 mg/dl
 CB >20 % of the total ,if the total bilirubin is >5 md/dl

5. Etiology

6. Etiology

10. Pathogensis

13. Prevalence
 Neonatal cholestasis :1 in 2,500 live births
 Biliary atrsia :1 in 10,000-15,000 infants
 Idiopathic neonatal hepatitis :1 in 5,000 -10,000

14. Intrahepatic cholestasis subtypes

15. Intrahepatic cholestasis sub types

16. Idiopathic neonatal hepatitis

18. Aegnas syndrome
 Form of idiopathic familial intrahepatic cholestasis
associated with lymphedma of lower extremities

19. Zellwegr syndrome (crebro
hepatorenal)
 Progressive degeneration of liver and kidneys

20. Neonatal iron storage disease
 Neonatal hemochromatosis ,gestational allo immune
liver disease
 Is a rapidly progressive disease characterized by
increased iron deposition in the liver ,heart ,and
endocrine organs without increased iron stores in RE
system

21. Disoders of
transport,secretion,conjugation
and biosynthesis of bile acids
 Benign recurrent intrahepatic cholestasis (BRIC TYPE
1)
 PFIC 2(BSEP deficiency)
 PFIC 3(MDR 3 disease)
 Progressive familial intrahepatic cholestasis (PFIC1) or
FIC 1( formerly known as byler disease)
 FAMILIAL HYPERCHOLANEMIA
 DEFECTIVE BILE ACID SYNTHESIS

22. BILE ACID –CO ENZYME A LIGASE
DEFICIENCY
 Conjugation with the amino acid glycine and taurine is
the last step in bile acid synthesis
 Two enzymes catalyse the amidation of bil acids
 Bile acid –CO A ligase
 Amino acid N-acyltransferase

23. Disorders of embryogenesis
 ALAGILLE SYNDROME (arterio hepatic dysplasia)
 Bile duct paucity (intrahepatic biliary atresia )
 Absense or marked reduction in the number of
interlobular bile ducts in the portal triads with normal
size branches of portal vein and hepatic arterioles

28. Biliary atresia

34. Choledochal cyst

37. Galactosemia

40. Inspissated bile syndrome
 Conjugated hyperbilirubinemia resulting from
 Severe jaundice associated hemolysis due to RH or
ABO incompatibility

41. Alpha -1-antitrypsin deficiency

42. TPN related cholestasis

65. Management of neonatal
cholestasis

66. Supportive management
 Parental counseling
 Nutritional support
 Treatment of pruritis
 Choleretics and bile acid -binders

70. Specific treatment
 INH –no specific rx
 BA-kasai procedure f/b liver transplantation
 Hypothyroidism –life long thyroxine
 Galactosemia –avoid galactose conatining food
 Choledochal cyst –excision of the cyst
 Congenital infction –according to causative organism

72. Liver transplantation

74. Neonatal hepatitis
 Variable prognosis
 60-70% recover with no evidence of hepatic structural
or functional impairement
 Approx 5-10 % have persistant fibrosis or
inflammation
 Small % have severe liver disease
 Infants die with hemorrhage or sepsis