Figure 919

Autosomal-dominant polycystic kidney disease (ADPKD): pheno-type PKD2 versus PKD1. Families with a PKD2 mutation have a milder phenotype than those with a PKD1 mutation. In this study comparing 306 PKD2 patients (from 32 families) with 288 PKD1 patients (17 families), PKD2 patients were, for example, less likely to be hypertensive, to have a history of renal infection, to suffer a subarachnoid hemorrhage, and to develop an abdominal hernia. As a consequence of the slower development of clinical manifestations, PKD2 patients were, on average, 26 years older at clinical presentation, 14 years older when they started dialysis, and 5 years older when they died. Early-onset ADPKD leading to renal failure in childhood has been reported only in the PKD1 variety. (Data from Hateboer [24].)

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