Rohatgi Rajeev
Department of Medicine, The Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, New York 10029, USA.
Front Biosci. 2008 May 1;13:4175-97. doi: 10.2741/2999.
Genetic mutations of discrete loci are the cause of a diverse array of polycystic kidney disease syndromes which present in distinct, as well as overlapping, phenotypic and hereditary patterns. Since molecular diagnostics are not currently a feasible clinical tool for the diagnosis of most cystic kidney diseases, physicians must rely upon their clinical acumen and knowledge base in order to identify these patients. The goal of this manuscript is to review the hereditary patterns, basic epidemiology, and phenotypic features of the most common of the cystic renal diseases so as to increase the awareness of these renal diseases among practicing physicians. Specifically, the genetic and phenotypic features of autosomal dominant polycystic kidney disease, autosomal recessive polycystic kidney disease, nephronopthisis-medullary cystic kidney disease complex, Bardet-Biedl syndrome, and oral-facial-digital syndrome type 1 will be reviewed.
离散位点的基因突变是多种多囊肾病综合征的病因，这些综合征呈现出不同的以及重叠的表型和遗传模式。由于目前分子诊断对于大多数囊性肾病的诊断并非可行的临床工具，医生必须依靠他们的临床敏锐度和知识库来识别这些患者。本手稿的目的是回顾最常见的囊性肾病的遗传模式、基本流行病学和表型特征，以提高执业医生对这些肾病的认识。具体而言，将回顾常染色体显性多囊肾病、常染色体隐性多囊肾病、肾单位肾痨-髓质囊性病综合征、巴德-比德尔综合征和1型口面指综合征的遗传和表型特征。
