Prevalence of autosomal dominant polycystic kidney disease in the European Union

Abstract

Background: Autosomal dominant polycystic kidney disease (ADPKD) is a leading cause of end-stage renal disease, but estimates of its prevalence vary by >10-fold. The objective of this study was to examine the public health impact of ADPKD in the European Union (EU) by estimating minimum prevalence (point prevalence of known cases) and screening prevalence (minimum prevalence plus cases expected after population-based screening).

Methods: A review of the epidemiology literature from January 1980 to February 2015 identified population-based studies that met criteria for methodological quality. These examined large German and British populations, providing direct estimates of minimum prevalence and screening prevalence. In a second approach, patients from the 2012 European Renal Association‒European Dialysis and Transplant Association (ERA-EDTA) Registry and literature-based inflation factors that adjust for disease severity and screening yield were used to estimate prevalence across 19 EU countries (N = 407 million).

Results: Population-based studies yielded minimum prevalences of 2.41 and 3.89/10 000, respectively, and corresponding estimates of screening prevalences of 3.3 and 4.6/10 000. A close correspondence existed between estimates in countries where both direct and registry-derived methods were compared, which supports the validity of the registry-based approach. Using the registry-derived method, the minimum prevalence was 3.29/10 000 (95% confidence interval 3.27-3.30), and if ADPKD screening was implemented in all countries, the expected prevalence was 3.96/10 000 (3.94-3.98).

Conclusions: ERA-EDTA-based prevalence estimates and application of a uniform definition of prevalence to population-based studies consistently indicate that the ADPKD point prevalence is <5/10 000, the threshold for rare disease in the EU.

Keywords: European Union; autosomal dominant polycystic kidney disease; epidemiology; orphan disease; rare disease.

FIGURE 1

Point prevalence of ADPKD from published population studies [–, –28, 30] compared with estimates derived by autopsy frequency and theoretical lifetime risk [17]. *Period prevalence estimates provided by Patch et al. [28] and Simon et al. [30] were recalculated to estimate total point prevalence. Hatched line at 5/10 000 indicates criterion used for orphan designation in EU. Estimates based on Dalgaard's [15] autopsy data represent frequency of polycystic kidneys at autopsy (black bar). Genetic frequency from hospital records was derived by Nyholm and Helweg-Larsen's [16] method for calculating morbid risk (dark gray bar). Period prevalence was calculated using autopsy and hospital records (hatched gray bar). Point prevalence values from published population studies are plotted to right (light gray bars).

FIGURE 2

Correlation between country-specific minimum prevalence estimates in 2010 and 2012. Estimates from ERA–EDTA Registry in 2010 and 2012 were calculated assuming a 23% RRT rate [20, 36]. Estimates were not adjusted for between-country differences in population age structure. Prevalence data for Austria (3.39), Croatia (3.12) and Slovenia (4.67) were available only for 2012; data for Germany (3.32) and Italy (2.80) were available only for 2010.