Autosomal dominant polycystic kidney disease: from molecular genetics to the patients

Summary One of the gene loci (PKD1) responsible for autosomal dominant polycystic kidney disease was located in 1985 to the short arm of chromosome 16. The clinical consequences of this finding are analyzed. Genetic heterogeneity has been demonstrated since 5%–15% of the families inherit a non-PKD1 mutation. Progress in molecular genetics allows better classification of patients with some atypical manifestations, e.g., those with early renal failure or those with congenital hepatic fibrosis. Identification of the gene(s) and of their defects will provide further progress.Abbreviations ADPKD autosomal dominant polycystic kidney disease - ESRF end stage renal failure - PKD polycystic kidney disease - RFLP restriction fragment length polymorphisms