Article
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.
BMC medical genomics - 25 Jul 2023
Qiao Fei, Ren Feng, Lu Weiting, Yang Haoran, Mo Guiling, Wang Shuangshuang, Liu Lina, Xu Xiangtao
Abstract excerpt
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 resistance protein 3 (MDR3/ABCB4). Patients are usually in infancy or childhood, but cirrhosis and portal hypertension may be...
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