The Autosomal Dominant Polycystic Disease: Tribute to its Essential Nature

Abstract

The autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic diseases, with an incidence of 1:1000, and is the leading genetic cause of adult kidney failure. They can distinguish two types, type I, caused by mutations in the PKD1 gene, and type II, caused by mutations of the PKD2 gene. The disease has an onset between 40 and 50 years, but may occur sooner, and has a systemic footprint. The diagnosis is often accidental, in the course of investigations motivated by other clinical questions, or promoted by the presence of clinical signs related. In diagnostic procedures, the ADPKD must be distinguished from simple renal cysts, single or multiple, partially affecting the kidneys that usually do not present a critic evolution. It is possible that they can be misdiagnosed in clinical conditions involving the presence of renal cysts, with the risk of underestimating the clinical relevance of the ADPKD. To test this hypothesis, we conducted an epidemiological study in the setting of italian General Practice which showed a prevalence (1.9‰) almost four times higher than that recorded (0.5‰) before the information provided about the characteristics clinical and diagnostic of the ADPKD. The ratio M:F was 1.65. It is desirable the commitment of General Practice, in conjunction with the Patients' Associations and the nephrologic Scientific Societies, in order to contribute to an optimal clinical management of the condition, aimed to ensure the wellbeing of the patient.