Bile acid synthesis defect (5B-reductase deficiency) a rare cause of cholestasis in an infant

Dr Siddhu Sharandeep Kaur,Dr Varun Anand,Dr Niladri Das,Dr Mayank Detroja,Dr Alpana Kondekar

doi:10.17511/ijpr.2019.i05.11

Dr Siddhu Sharandeep Kaur, Dr Varun Anand + Show 3 more

Open Access

https://doi.org/10.17511/ijpr.2019.i05.11

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Abstract

Bile acid synthesis defect (5B-reductase deficiency) a rare cause of cholestasis in an infant

Highlights

IntroductionBile acid synthesis disorders (BASD) is a rare cause of cholestatic jaundice in infants
Bile acid synthesis disorders (BASD) is a rare cause of cholestatic jaundice in infants. It leads to rapidly progressive chronic liver disease and complications which can be prevented by early initiation of treatment with bile acids
Two complementary chemical pathways are present in hepatocytes for synthesis of these bile acids

Summary

Introduction

Bile acid synthesis disorders (BASD) is a rare cause of cholestatic jaundice in infants. Patient underwent liver biopsy (figure 1) which showed features of cholestatic liver disease with dense periportal fibrosis and early cirrhosis Due to high clinical suspicion his genetic study was done, which revealed, a homozygous single base pair deletion in exon 6 of the AKR1D1 gene suggesting congenital defect in bile acid synthesis with delta (4)- 3 –oxosteroid 5-beta – reductase deficiency. He was managed with UDCA (ursodeoxycholic acid) dose of 20mg/kg/day initially and later with cholic acid (20mg/kg/day), fat soluble vitamins supplement as follows- vitamin A (10000IU/day), vitamin D (2000IU/day), vitamin E/tocopherol (100IU/kg/day), vitamin K/phytonadione (5mg /day).

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