| 1 | Evidence from a familial case suggests maternal inheritance of primary biliary cholangitis显示文摘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 highpenetrance 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 mildly increased liver enzyme levels and symptomatic stages with acute hepatitis or advanced liver fibrosis. Additional studies are needed to investigate the role of genetic factors in the pathogenesis of this rare autoimmune disease. | Saeam Shin In Ho Moh Young Sik Woo Sung Won Jung Jin Bae Kim Ji Won Park Ki Tae Suk Hyoung Su Kim Mineui Hong Sang Hoon Park Myung Seok Lee | 2017 | World Journal of Gastroenterology2017，23，39： | 3 |
您所在的机构暂未开通此部分的功能，请联系管理员