[Molecular genetic diagnosis of autosomal dominant polycystic kidney disease].
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary disease of kidney. The renal function is impaired by the development of the cysts. Patients with ADPKD have often affected other organs. Nowadays there is established linkage analysis of ADPKD using microsatellites in Czech Republic. Molecular analysis allows presymptomatic diagnosis in risk-individuals and prenatal diagnosis in affected families. The detection of mutations is performed supporting by the grant in Czech Republic. The detection of mutation will contribute to more precise diagnosis in controversial cases.
Reiterová
J
J
I. interí klinika 1. LF a VFN, U nemocnice 2, 128 08 Praha 2, Czech Republic.
Merta
M
M
Stekrová
J
J
Tesar
V
V
D000328:Adult; D002874:Chromosome Mapping; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D018895:Microsatellite Repeats; D008875:Middle Aged; D009154:Mutation; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis* / Q000235:genetics; D011296:Prenatal Diagnosis; D011506:Proteins / Q000235:genetics; D050396:TRPP Cation Channels
D008565:Membrane Proteins; D011506:Proteins; D050396:TRPP Cation Channels
Molekulárnĕ genetická diagnostika polycystické choroby ledvin autosomálnĕ dominantního typu.