常染色体隐性遗传性多囊肾合并先天性肝纤维化一家系3例报告及文献复习
Journal of Clinical Hepatology（2019）
Abstract
常染色体隐性遗传性多囊肾(autosomal recessive polycystic kidney disease,ARPKD)是一种多发于儿童肾脏和胆道系统的严重单基因遗传病[1],以肝门静脉系统发育不全为特征,包括胆管板重塑缺陷、胆管增生和先天性肝纤维化(congenital hepatic fibrosis,CHF)[2-4].ARPKD发病率为1:20 000～40 000,属罕见病[5],合并CHF的发病率更低.本文将一家系(3姐弟)ARPKD伴CHF的病例报道如下.
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