Case Report: A Rare Case of Benign Recurrent Intrahepatic Cholestasis-Type 1 With a Novel Heterozygous Pathogenic Variant of ATP8B1

Case Report: A Rare Case of Benign Recurrent Intrahepatic Cholestasis-Type 1 With a Novel Heterozygous Pathogenic Variant of ATP8B1

Benign recurrent intrahepatic cholestasis type 1 (BRIC1) is a rare autosomal recessive disorder that is characterized by intermittent episodes of jaundice and intense pruritus and caused by pathogenic variants of adenosine triphosphatase phospholipid transporting 8B1 (ATP8B1). The presence of geneti...

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Bibliographic Details
Main Authors: Hiroyuki Suzuki, Teruko Arinaga-Hino, Tomoya Sano, Yutaro Mihara, Hironori Kusano, Tatsuki Mizuochi, Takao Togawa, Shogo Ito, Tatsuya Ide, Reiichiro Kuwahara, Keisuke Amano, Toshihiro Kawaguchi, Hirohisa Yano, Masayoshi Kage, Hironori Koga, Takuji Torimura
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-04-01
Series:Frontiers in Medicine
Subjects:
benign recurrent intrahepatic cholestasis (BRIC)
ATP8B1
autosomal recessive
cholestasis
progressive familial intrahepatic cholestasis (PFIC)
rifampicin
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2022.891659/full

Internet

https://www.frontiersin.org/articles/10.3389/fmed.2022.891659/full

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