Renal cystic disease.
Renal cystic diseases constitute the most common genetic cause for end-stage renal disease in children and young adults. Recently, there has been rapid progress regarding the identification or chromosomal localization of some of the responsible disease genes. Studies of the respective gene products and of related animal models have led to new insights into the pathophysiology of these disorders. In this review, very recent developments are discussed as they pertain to molecular genetic diagnosis, the understanding of pathophysiology, and potential novel therapeutic approaches to renal cystic diseases.
Hildebrandt
F
F
University Children's Hospital, Freiburg, Germany.
D000328:Adult; D002648:Child; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D013577:Syndrome