title: DNA diagnosis and clinical manifestations of autosomal dominant polycystic kidney disease.
abstract: At least 2 genes, detectable by DNA methods, encode autosomal dominant polycystic kidney disease (ADPKD), which remains the most frequent and serious hereditary renal disease. PKD1 gene, localized on chromosome 16, responds for the clinical course in the majority of ADPKD patients, whereas PKD2 gene, localized on chromosome 4, is responsible for less than 10-15% of cases, with presumed milder phenotypic manifestations. To start the clinical and genetic correlation in patients with different genotypes (PKD1 vs. PKD2) in the Czech population, a pilot group of 88 patients with ADPKD was analysed. Families with PKD1 (n = 44) represented 95.6% and families with PKD2 (n = 2) 4.4% of all families investigated (n = 46). Our clinical analysis, yet based only on a limited number of PKD2 subjects, does not definitely support the concept of a milder phenotype and prognosis in PKD2 versus PKD1 patients, in terms of mean age of diagnosis (29 vs. 29 years), mean age at onset of arterial hypertension (33 vs. 33 years), more favourable renal function or ultrasound findings.
authors.affiliation: 1st Medical Department, 1st Medical Faculty, Charles University, Prague, Czech Republic.
authors.forename: M
authors.initials: M
authors.lastname: Merta
authors.forename: J
authors.initials: J
authors.lastname: Stekrová
authors.forename: J
authors.initials: J
authors.lastname: Zidovská
authors.forename: M
authors.initials: M
authors.lastname: Vorsilková
authors.forename: J
authors.initials: J
authors.lastname: Walterová
authors.forename: J
authors.initials: J
authors.lastname: Kapras
authors.forename: M
authors.initials: M
authors.lastname: Alánová
authors.forename: D
authors.initials: D
authors.lastname: Rasková
authors.forename: R
authors.initials: R
authors.lastname: Gaillyová
authors.forename: E
authors.initials: E
authors.lastname: Archmanová
authors.forename: R
authors.initials: R
authors.lastname: Rysavá
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003404:Creatinine / Q000097:blood; D018153:Czech Republic / Q000453:epidemiology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D006973:Hypertension / Q000150:complications; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D018895:Microsatellite Repeats; D008875:Middle Aged; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011506:Proteins / Q000235:genetics*; D050396:TRPP Cation Channels
chemical_list: D003404:Creatinine; D008565:Membrane Proteins; D011506:Proteins; D050396:TRPP Cation Channels