The prevalence of autosomal dominant polycystic kidney disease (ADPKD): A meta-analysis of European literature and prevalence evaluation in the Italian province of Modena suggest that ADPKD is a rare and underdiagnosed condition

Abstract

Background and objectivesADPKD is erroneously perceived as a not rare condition, which is mainly due to the repeated citation of a mistaken interpretation of old epidemiological data, as reported in the Dalgaard's work (1957). Even if ADPKD is not a common condition, the correct prevalence of ADPKD in the general population is uncertain, with a wide range of estimations reported by different authors. In this work, we have performed a meta-analysis of available epidemiological data in the European literature. Furthermore we collected the diagnosis and clinical data of ADPKD in a province in the north of Italy (Modena). We describe the point and predicted prevalence of ADPKD, as well as the main clinical characteristics of ADPKD in this region.MethodsWe looked at the epidemiological data according to specific parameters and criteria in the Pubmed, CINAHL, Scopus and Web of Science databases. Data were summarized using linear regression analysis. We collected patients’ diagnoses in the Province of Modena according to accepted clinical criteria and/or molecular analysis. Predicted prevalence has been calculated through a logistic regression prediction applied to the at-risk population.ResultsThe average prevalence of ADPKD, as obtained from 8 epidemiological studies of sufficient quality, is 2.7: 10,000 (CI95 = 0.73–4.67). The point prevalence of ADPKD in the province of Modena is 3.63: 10,000 (CI95 = 3.010–3.758). On the basis of the collected pedigrees and identification of the at-risk subjects, the predicted prevalence in the Province of Modena is 4.76: 10,000 (CI 95% = 4.109–4.918).ConclusionAs identified in our study, point prevalence is comparable with the majority of the studies of literature, while predicted prevalence (4.76: 10,000) generally appears higher than in the previous estimates of the literature, with a few exceptions. Thus, this could suggest that undiagnosed ADPKD subjects, as predicted by our approach, could be relevant and will most likely require more clinical attention. Nevertheless, our estimation, in addition to the averaged ones derived from literature, not exceeding the limit of 5:10,000 inhabitants, are compatible with the definition of rare disease adopted by the European Medicines Agency and Food and Drug Administration.

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

“…Other recently published European studies [17, 36, 37] have yielded similar prevalence estimates ranging from 3.3 to 4.6 per 10,000. Also consistent with these results, a recent European meta-analysis of 8 epidemiologic studies yielded an average prevalence of 2.7 per 10,000 (95% CI = 0.73–4.67) and a point prevalence of 3.63 per 10,000 in the province of Modena (Italy) [38]. …”

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

“…In addition, the complex nature of RDs may lead to variation in epidemiological estimates, for example by the lack of diagnostic consensus for many RDs [41]. Late onset, reduced penetrance, under-recognition, and variable presentations of some RDs, as well as the lack of population screening tools for many RDs, can affect the recorded point prevalence [42].…”

Genome-Scale Single Nucleotide Resolution Analysis of DNA Methylation in Human Autosomal Dominant Polycystic Kidney Disease

“…Autosomal dominant polycystic kidney disease (ADP-KD) is the most common form of inherited kidney disease, affecting 1-5 per 10,000 individuals [1]. ADPKD is characterized by the formation of fluid-filled cysts within the kidney, with renal function declining in the fourth or fifth decade of life, leading to end stage kidney disease.…”