Clinical manifestations of hereditary cystic kidney disease.

Content Provider	Semantic Scholar
Author	Rohatgi, Rajeev
Copyright Year	2008
Abstract	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.
Starting Page	175
Ending Page	182
Page Count	8
File Format	PDF HTM / HTML
Alternate Webpage(s)	https://www.bioscience.org/fbs/getfile.php?FileName=/2008/v13/af/2999/2999.pdf
PubMed reference number	18508505v1
Volume Number	13
Journal	Frontiers in bioscience : a journal and virtual library
Language	English
Access Restriction	Open
Subject Keyword	Autosomal Recessive Polycystic Kidney Disease Autosomal dominant inheritance Autosomal recessive inheritance Cystic Kidney Diseases Knowledge Bases Manuscripts Nephronophthisis Orofaciodigital Syndromes Paget's Disease, Mammary Patients Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Syndrome
Content Type	Text
Resource Type	Article