Tahvanainen Esa, Tahvanainen Pia, Kääriäinen Helena, Höckerstedt Krister
University of Helsinki, Department of Medical Genetics, Raisiontie 11A3, 00280 Helsinki, Finland.
Ann Med. 2005;37(8):546-55. doi: 10.1080/07853890500389181.
There have been remarkable advances in research on polycystic liver and kidney diseases recently, covering cloning of new genes, refining disease classifications, and advances in understanding more about the molecular pathology of these diseases. Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary disease affecting kidneys. It affects 1/400 to 1/1000 live births and accounts for 5% of the end stage renal disease in the United States and Europe, and is caused by gene defects in the PKD1 or PKD2 genes. Compared to ADPKD, polycystic liver disease (PCLD) is a milder disease and does not lower life expectancy. Both diseases are usually adult-onset diseases. Defects in genes, which code the hepatocystin and SEC63 proteins, have just recently been found to cause PCLD. It now seems that ADPKD is caused by malfunction of the primary cilia, a cell organ sensing fluid movement, and that PCLD is a sequel from defects in protein processing. Autosomal recessive polycystic kidney disease (ARPKD) belongs to a group of congenital hepatorenal fibrocystic syndromes. All ARPKD patients have a gene defect in a gene called PKHD1, the protein product of which localizes to primary cilia. We summarize the present clinical and molecular knowledge of these diseases in this review.
近年来，多囊肝和多囊肾疾病的研究取得了显著进展，涵盖新基因的克隆、疾病分类的细化以及对这些疾病分子病理学更深入的了解。常染色体显性多囊肾病（ADPKD）是最常见的影响肾脏的遗传性疾病。其发病率为1/400至1/1000活产儿，在美国和欧洲占终末期肾病的5%，由PKD1或PKD2基因缺陷引起。与ADPKD相比，多囊肝病（PCLD）是一种较轻的疾病，不影响预期寿命。这两种疾病通常都是成人发病。最近发现，编码肝囊肿蛋白和SEC63蛋白的基因缺陷会导致PCLD。现在看来，ADPKD是由初级纤毛功能异常引起的，初级纤毛是一种感知液体流动的细胞器，而PCLD是蛋白质加工缺陷的后果。常染色体隐性多囊肾病（ARPKD）属于一组先天性肝肾纤维囊性综合征。所有ARPKD患者在一个名为PKHD1的基因中都有基因缺陷，其蛋白质产物定位于初级纤毛。在本综述中，我们总结了这些疾病目前的临床和分子知识。
