DNA DIAGNOSIS AND CLINICAL MANIFESTATIONS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE

At least 2 genes, detectable by DNA methods, encode autosomal dominant polycystic kidney disease (ADPKD), which remains the most frequent an d serious hereditary renal disease. PKD1 gene, localized on chromosome 16, responds for the clinical course in the majority of ADPKD patient s, whereas PKD2 gene, localized on chromosome 4, is responsible for le ss than 10-15% of cases, with presumed milder phenotypic manifestation s. To start the clinical and genetic correlation in patients with diff erent genotypes (PKD1 vs. PKD2) in the Czech population, a pilot group of 88 patients with ADPKD was analysed. Families with PKD1 (n = 44) r epresented 95.6% and families with PKD2 (n = 2) 4.4 % of all families investigated (n = 46). Our clinical analysis, yet based only on a limi ted number of PKD2 subjects, does not definitely support the concept o f a milder phenotype and prognosis in PKD2 versus PKD1 patients, in te rms of mean age of diagnosis (29 vs. 29 years), mean age at onset of a rterial hypertension (33 vs. 33 years), more favourable renal function or ultrasound findings.