CC BY 4.0 · Journal of Child Science 2020; 10(01): e134-e136
DOI: 10.1055/s-0040-1717106
Case Report

A Novel Compound Heterozygous Mutation in ABCB4 Gene Leading to Cholelithiasis, Progressive Familial Intrahepatic Cholestasis (Type 3), and Cirrhosis in a Child

Nida Mirza
1  Indraprastha Apollo Hospital, New Delhi, India
Smita Malhotra
1  Indraprastha Apollo Hospital, New Delhi, India
Anupam Sibal
1  Indraprastha Apollo Hospital, New Delhi, India
› Author Affiliations


Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive disorders of childhood which presents with intermittent or progressive episodes of cholestasis, with jaundice and pruritus as most common presenting symptoms. PFIC type 3 occurs due to mutations in the ABCB4 gene, mutation in this gene has wide spectrum of features which include intrahepatic stones, cholelithiasis, PFIC type 3, and intrahepatic cholestasis of pregnancy. Here, we are reporting a peculiar case of young male adolescent with novel variant compound heterozygote missense mutation in ABCB4 gene who had gall stone as initial symptom, followed by symptoms of PFIC and eventually decompensated chronic liver disease.

Publication History

Received: 01 July 2020

Accepted: 22 August 2020

Publication Date:
09 October 2020 (online)

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Georg Thieme Verlag KG
Stuttgart · New York