Epidemiology

Autosomal-dominant PKD (ADPKD) occurs worldwide and in all races. Estimates in prevalence are limited by age-dependent penetrance and incomplete clinical ascertainment.[8] Worldwide there is considerable variability in prevalence between countries, due in part to geographical clustering of families with ADPKD, but also due to differences in prevalence definitions or the misinterpretation of autopsy data.[9] In the US, the annual prevalence of ADPKD varies by state, with an average estimated annual prevalence of ADPKD of 2.34 per 10,000.[10] In the Olmsted County study, the annual incidence of definite and likely ADPKD diagnosis during 1980 to 2016 was 3.06 per 100,000 person-years.[11]

In Europe, epidemiological studies report point prevalence of ADPKD at 3.96 per 10,000 by the European Dialysis and Transplant Association Registry (included 19 European Union countries), 4.76 per 10,000 in the province of Modena in Italy, and 5.73 per 10,000 by 60 years of age in southwest Germany.[9][12][13]

All patients with mutations in either PKD1 or PKD2 genes have the potential for diagnosis early in life; however, females are more likely to be diagnosed during early adulthood than males, possibly due to the use of abdominal ultrasound during pregnancy.[14]

ADPKD is the fourth primary cause of end-stage renal disease in the US (after diabetes, hypertension, and glomerulonephritis) and patients with polycystic disease were much more likely to initiate peritoneal dialysis or receive a pre-emptive transplant than those with other causes.[15]

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