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
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
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
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