A New Variant of an Old Itch: Novel Missense Variant in ABCB4 Presenting with Intractable Pruritus

Sahana Shankar,Apurva Pande,Thenral S. Geetha,Karthik Raichurkar, Malikarjun Sakpal,Rajiv Lochan,Sonal Asthana

Journal of Clinical and Experimental Hepatology（2022）

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摘要

We report a novel homozygous missense variant in ABCB4 gene in a Yemeni child born to consanguineous parents, with a significant family history of liver disease-related deaths, resulting in a progressive familial intrahepatic cholestasis (PFIC) type 3 phenotype requiring liver transplantation for intractable pruritus.

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congenital liver disease,PFIC,ABCB4 mutation,liver transplantation

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