J Pediatr Genet 2017; 06(02): 126-127
DOI: 10.1055/s-0036-1597912
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Progressive Familial Intrahepatic Cholestasis Type 2 in an Indian Child

Ira Shah
1  Pediatric Liver Clinic, Department of Pediatrics, B. J. Wadia Hospital for Children, Mumbai, India
,
Sujeet Chilkar
1  Pediatric Liver Clinic, Department of Pediatrics, B. J. Wadia Hospital for Children, Mumbai, India
› Author Affiliations
Further Information

Publication History

19 April 2016

30 November 2016

Publication Date:
02 January 2017 (eFirst)

Abstract

Progressive familial intrahepatic cholestasis (PFIC) is a chronic cholestasis syndrome that begins in infancy and usually progresses to cirrhosis within the first decade of life. There are three varieties of PFIC described: PFIC-1 occurs due to mutations in the ATP8B1 gene mapped to 18q21.31, PFIC-2 due to mutations in ABCB11 mapped to 2q24, and PFIC-3 due to mutations in ABCB4 located on 7q21.12. We report an Indian child whose mutation analysis was suggestive of PFIC-2. He underwent a biliary diversion at 3½ years of age but subsequently died secondary to massive hematemesis.