Open AccessA suspected case of Progressive Familial Intra-hepatic Cholestasis in a Six-Year-Old Nigerian Child
Author(s) -
Anthony Oyovwikigho Atimati,
Paul Ikhurionan
Publication year - 2019
Publication title -
annals of health research
Language(s) - English
Resource type - Journals
ISSN - 2536-6149
DOI - 10.30442/ahr.0501-14-44
Subject(s) - medicine , jaundice , cholestasis , gastroenterology , ursodeoxycholic acid , pediatrics , progressive familial intrahepatic cholestasis , abdominal pain , incidence (geometry) , liver transplantation , transplantation , physics , optics
Progressive Familial Intra-hepatic Cholestasis (PFIC) is a group of heterogeneous, autosomal recessive disorders characterized by cholestasis, jaundice and mutilating pruritus, mostly in infancy. The incidence of PFIC ranges from 1:50,000 to 1:100,000. There are three subtypes; Types 1 and 2 typically present in the neonatal period and early infancy while Type 3 can present in early infancy, childhood or adolescence. This report is about a 6-year old Nigerian girl who presented with jaundice and severe pruritus of one-month duration and abdominal pain of a week duration. The symptoms were preceded by ingestion of Atropine meant for ocular examination two days earlier. She was well-nourished, deeply icteric, had generalized healing scratch marks and hepatomegaly. The laboratory findings included conjugated hyperbilirubinaemia, moderately elevated liver transaminases and Gamma-Glutamyltransferase enzymes. She was managed for PFIC3 using oral ursodeoxycholic acid with complete resolution of the disease.