The review article presents current information on the prevalence and diagnosis of polycystic kidney disease (PKD). Estimated prevalence of autosomal dominant polycystic kidney disease (ADPKD) indicates that the estimated number of patients in different countries varies from 1 case per 400–1000 newborns, and in the general population 1 per 2459 (in the UK), 1 per 2700–4000 (in Japan), 1 per 1111 (in France). In addition, according to the European Renal Association (ERA), the prevalence of this pathology in 19 European countries was 1 case per 2525 (i.e. no more than 5 cases per 10 thousand inhabitants). Autosomal recessive polycystic kidney disease (ARPKD) is less common, and the clinical course and prognosis are much more severe than with ADPKD. The clinical picture of ARPKD manifests itself in perinatal period or childhood.
In Tajikistan, despite the increase in the incidence rate and the importance of this problem, many aspects of ARPKD, such as prevalence, diagnosis, clinical symptoms, and features of the course of the disease, remain unclear and contradictory. Moreover, clinical course variants of the disease with low therapy efficiency and often leading to early disability and mortality are increasingly observed. Thus, there is a noticeable underestimation of the real prevalence of APKD, so a significant number of patients (probably only with a mild or moderate form of the pathology) remain undiagnosed. The most informative visual diagnostic methods include ultrasonography, computed tomography and magnetic resonance imaging, as well as genetic analysis, which can be used to obtain more accurate data that have prognostic value.

Keywords: genetic analysis, autosomal recessive polycystic kidney disease, polycystic kidney disease, autosomal dominant polycystic kidney disease, prenatal screening, ultrasonography, computed tomography, magnetic resonance imaging