遺傳性腎病(inheritedkidneydiseases)是由基因突變所致，并按孟德爾定律遺傳子代的一組腎臟疾病，包括遺傳性腎囊腫疾病，如常染色體顯性遺傳型多囊腎病(autosomaldominantpolycystickidneydisease，ADPKD)；遺傳性腎小球疾病，如遺傳性腎炎(Alportsyndrome，AS)、薄基底膜腎病(thinbasementmembranedisease，TBMD)和Fabry病；遺傳性腎小管疾病，如家族性抗維生素D佝僂病(familialvitamineDresistantrickets，VDRR)；以及遺傳代謝性腎病，如胱氨酸腎病等。過去，對遺傳性腎病認識不足，發現率低。隨著現代分子生物學技術的進步，遺傳性腎病的基因突變檢測，發病機制研究及診斷技術水平有了很大提高，基因治療也給遺傳性腎病患者帶來了治愈的希望。ADPKD是一種最常見的單基因遺傳性腎病，人群發病率約1／1000t[1]。家系中代代有人患病，子代患病機率為50％，男女患病相等，患者等位基因為雜合子是其遺傳特點。目前ADPKD研究主要有以下進展：(1)分子遺傳學研究：研究表明引起ADPKD的突變基因至少有3種，按發現先后，分別稱為PKD1、PKD2和PKD3。PKD3尚未在染色體上定位，PKD1和PKD2引起ADPKD分別占85％和15％，均已在染色體上定位和克隆。PKD1位于第16人染色體短臂1區3帶上(16p13)，蛋白質產物是由4302個氨基酸殘基構成的一種糖蛋白，稱為多囊蛋白-1，位于細胞膜上[2]。本刊今期發表的文章表明多囊蛋白-1在正常腎小球囊和腎小管上皮細胞均有表達，在胎腎腎小管和多囊腎襯里上皮表達顯著增強。PKD2位于第4人染色體長臂2區1帶至3帶之間(4q21～23)，翻譯產物稱為多囊蛋白-2。由968個氨基酸殘基構成，同樣是一種膜蛋白。多囊蛋白功能未明，推測它們主要介導細胞-細胞，細胞-基質A之間的相互作用，促進上皮細胞分化，維持膜蛋白正(全文見PDF)參考文獻：

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