Congenital fibrocystic liver diseases

被引：45

作者：

Drenth, Joost P. H. ^{[2
]}

Chrispijn, Melissa ^{[2
]}

Bergmann, Carsten ^{[1
,3
]}

机构：

[1] Rhein Westfal TH Aachen, Dept Human Genet, Aachen, Germany

[2] Radboud Univ Nijmegen, Med Ctr, Dept Gastroenterol & Hepatol 455, NL-6525 GA Nijmegen, Netherlands

[3] Ctr Human Genet, D-55218 Ingelheim, Germany

来源：

BEST PRACTICE & RESEARCH CLINICAL GASTROENTEROLOGY | 2010年 / 24卷 / 05期

关键词：

Fibrocystic diseases; Autosomal dominant polycystic liver disease; (PCLD); Autosomal dominant polycystic kidney disease (ADPKD); Early and severe disease manifestation; Autosomal recessive polycystic kidney disease (ARPKD); Caroli s disease; PRKCSH; SEC63; PKD1; PKD2; PKHD1; Variable disease expression; Cilia; Ciliopathies; Meckel-Gruber syndrome; MKS; Joubert syndrome; JBTS; Bardet-Biedl syndrome; BBS; Jeune syndrome; Ductal plate malformation; Congenital hepatic fibrosis; Choledochal cysts; POLYCYSTIC KIDNEY-DISEASE; INTRAHEPATIC PERIBILIARY GLANDS; BILE-DUCT CYSTS; MOLECULAR CHARACTERIZATION; SURGICAL-MANAGEMENT; IMAGING EVALUATION; SECRETORY PATHWAY; PKHD1; MUTATIONS; QUALITY-CONTROL; GLUCOSIDASE-II;

D O I：

10.1016/j.bpg.2010.08.007

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Fibrocystic diseases affecting the liver and often also other organs like the kidneys are a clinically and genetically heterogeneous group of disorders that may present in utero or remain clinically silent into late adulthood During recent years substantial progress has been made in unravelling the aetiology with primary cilia playing a central pathogenic role in many if not all of these diseases The fibrocystogenic process shares some common features including proliferation and dilatation of epithelial bile ducts with concomitant abnormal apoptosis, fluid secretion and extracellular matrix deposition In this review we summarise clinical and diagnostic aspects mechanisms of hepatic cystogenesis and recent knowledge on potential therapies for these conditions (C) 2010 Elsevier Ltd All rights reserved

引用

页码：573 / 584

页数：12

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