A suspected case of Progressive Familial Intra-hepatic Cholestasis in a Six-Year-Old Nigerian Child
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 typical...
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Published in | Annals of Health Research (Onabanjo University Teaching Hospital) Vol. 5; no. 1; pp. 135 - 140 |
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Main Authors | , |
Format | Journal Article |
Language | English |
Published |
Medical and Dental Consultants Association of Nigeria, OOUTH Sagamu
01.06.2019
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Subjects | |
Online Access | Get full text |
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Summary: | 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. |
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ISSN: | 2476-8642 2536-6149 |
DOI: | 10.30442/ahr.0501-14-44 |