Clinical manifestations of hereditary cystic kidney disease.
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.
Rohatgi
Rajeev
R
Department of Medicine, The Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, New York 10029, USA. wardas@if-pan.krakow.pl
D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D020788:Bardet-Biedl Syndrome / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D002648:Child; D003937:Diagnosis, Differential; D004032:Diet; D004231:Diuresis; D006801:Humans; D015994:Incidence; D052177:Kidney Diseases, Cystic / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology*; D007676:Kidney Failure, Chronic / Q000209:etiology; D007679:Kidney Medulla / Q000503:physiopathology; D009154:Mutation; D016891:Polycystic Kidney, Autosomal Dominant / Q000150:complications / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D014402:Tuberous Sclerosis / Q000453:epidemiology / Q000235:genetics; D006623:von Hippel-Lindau Disease / Q000453:epidemiology / Q000235:genetics