1Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Mayo Clinic, 200 First Street Southwest, Rochester, MN 55905, USA. Electronic address: https://twitter.com/SaraHassanMD.
2Department 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: firstname.lastname@example.org.
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.