Overview of Progressive Familial Intrahepatic Cholestasis.

Sara Hassan, Paula Hertel

Journal: Clinics in liver disease 2022;26(3):371-390

PMID: 35868680

Full Text on Elsevier Science View on PubMed

Abstract

Bile acid transport is a complex physiologic process, of which disruption at any step can lead to progressive intrahepatic cholestasis (PFIC). The first described PFIC disorders were originally named as such before identification of a genetic cause. However, advances in clinical molecular genetics have led to the identification of additional disorders that can cause these monogenic inherited cholestasis syndromes, and they are now increasingly referred to by the affected protein causing disease. The list of PFIC disorders is expected to grow as more causative genes are discovered. Here forth, we present a comprehensive overview of known PFIC disorders.

Address: Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Mayo Clinic, 200 First Street Southwest, Rochester, MN 55905, USA. Electronic address: https://twitter.com/SaraHassanMD.; Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Baylor College of Medicine, Texas Children's Hospital, 6621 Fannin Street, Houston, TX 77030, USA. Electronic address: [email protected].

DOI: 10.1016/j.cld.2022.03.003

Link outs

Subscription / membership required

Full Text Sources:

MeSH Terms: ATP Binding Cassette Transporter, Subfamily B, ATP Binding Cassette Transporter, Subfamily B, Member 11, ATP-Binding Cassette Transporters, Cholestasis, Cholestasis, Intrahepatic, Humans