Prevalence of autosomal dominant polycystic kidney disease in the European Union.
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.
College of Pharmacy, University of Rhode Island, Kingston, RI, USA.
Cynthia J
CJ
Willey
Otsuka Pharmaceutical Development & Commercialization, Inc., Rockville, MD, USA.
Jaime D
JD
Blais
PSR Group BV, Hoofddorp, The Netherlands.
Anthony K
AK
Hall
Otsuka Pharmaceutical Development & Commercialization, Inc., Rockville, MD, USA.
Holly B
HB
Krasa
Otsuka Europe Development and Commercialisation Ltd, Wexham, UK.
Andrew J
AJ
Makin
Otsuka Pharmaceutical Development & Commercialization, Inc., Rockville, MD, USA.
Frank S
FS
Czerwiec
D005006:Ethnicity / Q000706:statistics & numerical data*; D005060:Europe / Q000453:epidemiology; D005062:European Union; D006801:Humans; D016030:Kidney Transplantation; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis / Q000453:epidemiology*; D015995:Prevalence; D012042:Registries / Q000706:statistics & numerical data*; D006435:Renal Dialysis; D017582:Renal Replacement Therapy
European Union; autosomal dominant polycystic kidney disease; epidemiology; orphan disease; rare disease