Genetic renal diseases in children.
In this review, a survey is given of genetic renal diseases in which recent progress has been made regarding the study of their molecular genetics. Diseases in which the responsible gene has been identified are discussed first, followed by a description of diseases in which successful chromosomal mapping has been achieved. The recent progress in this field will lead to advances in the diagnosis and understanding of the pathogenic mechanisms of genetic renal diseases and, potentially, will have implications for therapeutic interventions. The International Studies of Genetic Renal Diseases, which promotes the study of genetic renal disease, has recently provided an international database called kidbase, which is accessible via the Internet.
Hildebrandt
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University Children's Hospital, Freiburg, Germany.
D002648:Child; D002874:Chromosome Mapping; D003555:Cystinuria / Q000235:genetics; D018500:Diabetes Insipidus, Nephrogenic / Q000235:genetics; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics*; D009394:Nephritis, Hereditary / Q000235:genetics; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics; D014402:Tuberous Sclerosis / Q000235:genetics