Evidence from a familial case suggests maternal inheritance of primary biliary cholangitis

World Journal of Gastroenterology : WJG
Saeam ShinMyung Seok Lee

Abstract

Primary biliary cholangitis (PBC) is an idiopathic autoimmune liver disease characterized by chronic cholestasis and destruction of the intrahepatic bile ducts. Similar to other autoimmune diseases, the pathogenesis of PBC is considered to be a complex etiologic phenomenon involving the interaction of genetic and environmental factors. Although a number of common variants associated with PBC have been reported from genome-wide association studies, a precise genetic mechanism underlying PBC has yet to be identified. Here, we describe a family with four sisters who were diagnosed with PBC. After the diagnosis of the index patient who was in an advanced stage of PBC, one sister presented with acute hepatitis, and two sisters were subsequently diagnosed with PBC. Notably, one half-sister with a different mother exhibited no evidence of PBC following clinical investigation. Our report suggests the possibility of a maternal inheritance of PBC susceptibility. Moreover, judging from the high-penetrance of the disease observed in this family, we inferred that a pathogenic genetic variant might be the cause of PBC development. We describe a family that exhibited diverse clinical presentations of PBC that included asymptomatic stages with...Continue Reading

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Citations

Aug 3, 2018·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Keith D LindorMarlyn Mayo
Mar 25, 2020·The Korean Journal of Internal Medicine·Kyung-Ah KimSook-Hyang Jeong

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