Figure 914

Genetics of autosomal-dominant polycystic kidney disease (ADPKD). ADPKD is by far the most frequent inherited kidney disease. In white populations, its prevalence ranges from 1 in 400 to 1 in 1000. ADPKD is characterized by the development of multiple renal cysts that are variably associated with extrarenal (mainly hepatic and cardiovascular) abnormalities [1,2,3]. It is caused by mutations in at least three different genes. PKD1, the gene responsible in approximately 85% of the patients, located on chromosome 16, was cloned in 1994 [8]. It encodes a predicted protein of 460 kD, called polycystin 1. The vast majority of the remaining cases are accounted for by a mutation in PKD2, located on chromosome 4 and cloned in 1996 [9]. The PKD2 gene encodes a predicted protein of 110 kD called polycystin 2. Phenotypic differences between the two main genetic forms are detailed in Figure 9-19. The existence of (at least) a third gene is suggested by recent reports.

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