A female of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid: a case report

A female of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid: a case report

Abstract Background Progressive familial intrahepatic cholestasis (PFIC) is a group of rapidly progressive autosomal recessive disorders characterized by intrahepatic cholestasis. PFIC-3 is caused by mutations in the ATP-binding cassette subfamily B member 4 gene (ABCB4), which encodes multidrug res...

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Bibliographic Details
Main Authors: Fei Qiao, Feng Ren, Weiting Lu, Haoran Yang, Guiling Mo, Shuangshuang Wang, Lina Liu, Xiangtao Xu
Format: Article
Language:English
Published: BMC 2023-07-01
Series:BMC Medical Genomics
Subjects:
Progressive familial intrahepatic cholestasis type 3 (PFIC3)
ATP binding cassette subfamily B member 4 (ABCB4) gene
Multidrug-resistant protein 3 (MDR3)
Ursodeoxycholic acid (UDCA)
Case report
Online Access:https://doi.org/10.1186/s12920-023-01602-y

Internet

https://doi.org/10.1186/s12920-023-01602-y

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