Everson Gregory T, Taylor Matthew R G
Division of Gastroenterology and Hepatology, University of Colorado School of Medicine, 4200 East Ninth Avenue, B-154, Denver, CO 80262, USA.
Curr Gastroenterol Rep. 2005 Feb;7(1):19-25. doi: 10.1007/s11894-005-0061-6.
The adult forms of polycystic liver disease are characterized by autosomal dominant inheritance and numerous hepatic cysts, with or without renal involvement. Mutations in two distinct genes predispose to renal and liver cysts (PKD1 and PKD2), and mutations in two different genes yield isolated liver cysts (PRKCSH and SEC63). Mutations at certain loci of PKD1 may predispose to more severe renal cystic disease or cerebral aneurysms. Risk factors for severe hepatic cystic disease include aging, female sex, pregnancy, use of exogenous female steroid hormones, degree of renal cystic disease, or severity of renal dysfunction (in patients with mutations in PKD1 or PKD2). Although liver failure or complications of advanced liver disease is rare, some patients develop massive hepatic cystic disease and become clinically symptomatic. There is no effective medical therapy. Treatment options include cyst aspiration and sclerosis, open or laparoscopic cyst fenestration, hepatic resection, and liver transplantation.
成人型多囊肝病的特征是常染色体显性遗传以及出现大量肝囊肿，可伴有或不伴有肾脏受累。两个不同基因的突变易导致肾囊肿和肝囊肿（PKD1和PKD2），另外两个不同基因的突变则会导致孤立性肝囊肿（PRKCSH和SEC63）。PKD1某些位点的突变可能易引发更严重的肾囊性疾病或脑动脉瘤。严重肝囊性疾病的危险因素包括年龄增长、女性、妊娠、使用外源性女性甾体激素、肾囊性疾病的程度或肾功能不全的严重程度（PKD1或PKD2突变的患者）。虽然肝衰竭或晚期肝病并发症很少见，但一些患者会发展为巨大肝囊性疾病并出现临床症状。目前尚无有效的药物治疗方法。治疗选择包括囊肿穿刺抽吸硬化术、开放或腹腔镜囊肿开窗术、肝切除术以及肝移植。
