Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.
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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.