Prevalence of autosomal dominant polycystic kidney disease in the European Union

Abstract

BackgroundAutosomal 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).MethodsA 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).ResultsPopulation-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).ConclusionsERA–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.

Analysis of Nationwide Data to Determine the Incidence and Diagnosed Prevalence of Autosomal Dominant Polycystic Kidney Disease in the USA: 2013–2015

“…Prevalence rates were calculated using numerator data from the RenDER system and US population estimates from the US Census Bureau. The prevalence of ADPKD with ESRD was used to estimate the annual US prevalence using a method described in a previous publication [19]. This method applies an inflation factor derived from the ratio of total ADPKD prevalence to ADPKD with ESRD prevalence based on consistent results from population-based screening studies [29, 30].…”

“…Although several epidemiologic studies of ADPKD have recently been published in Europe [15-19], contemporary estimates of the incidence and prevalence in the USA are lacking. This study examines minimum or diagnosed prevalence, defined as the prevalence of diagnosed ADPKD cases divided by the population at a single point in time.…”

Biliary Tract and Liver Complications in Polycystic Kidney Disease

“…1,2 It is characterized by progressive enlargement of the kidneys with multiple bilateral cysts and eventual loss of kidney function, often causing end-stage renal disease (ESRD) in middle age. 1,3 Ten percent of patients on renal replacement therapy (RRT) in the United Kingdom and 5% in the United States have a primary renal diagnosis of ADPKD.…”

Primary Aldosteronism in a Patient with Autosomal Dominant Polycystic Kidney Disease Associated with Polycystic Liver Disease

“…Autosomal polycystic kidney disease (ADPKD) has a hereditary transmission and affects almost 12.5 million people worldwide, with an european prevalence less than 5 patients to 10000 people, and about 4000 cases in Romania (1). This disorder is caused by mutations in either of two genes: PKD-1 (polycystin-1) on chromosome 16, or PKD-2 (polycystin-2) on chromosome 4, and have various extrarenal manifestation as: hepatic cysts, intracranial aneurysms and arterial hypertension (2,3).…”