About: Multigenic etiology in hereditary kidney disorders in children: polycystic kidney disease and atypical HUS     Goto   Sponge   NotDistinct   Permalink

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  • The project focuses on rapid direct mutation diagnosis in regulatory genes in polycystic kidney disease and atypical HUS. The knowledge of precise genetics background of these diseases can improve the care of these patients by preventing complications and targeting suitable therapy. 1) Determination of presence/absence of mutations in HNF1B gene in patients with ARPKD and ADPKD and establish HNF1B gene as a modifier gene of PKD. 2) Search for mutations in HNF1B gene in patients with PKD of unknown origin and in children with perinatal detected hyperechogenic kidneys. 3) Search for multigenic disease etiology of aHUS and to determine phenotype-genotype correlations and prognostic factors significant for therapy and risk of recurrence after renal transplantation in patients with aHUS. (en)
  • Zvolili jsme si dvě závažné choroby ledvin, u nichž předpokládáme přítomnost změn v genech modifikující fenotyp či multigenní efekt postižení. A) Mutační analýza genu HNF1B jako možného chorobu modifikujícího genu u autozomálně dominantní i autozomálně recesivní polycystické choroby ledvin. B) Mutační analýza HNF1B genu u pacientů s polycystózou ledvin s nevysvětleným genetickým pozadím. C) Analýza změn v jednotlivých genech způsobujících atypický hemolyticko-uremický syndrom a jejich souhra v patogenezi onemocnění. (cs)
Title
  • Multigenic etiology in hereditary kidney disorders in children: polycystic kidney disease and atypical HUS (en)
  • Multigenní etiologie dědičných chorob ledvin u dětí: polycystóza ledvin a atypický hemolyticko uremický syndrom (cs)
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  • polycystic kidney disease; atypical hemolytic uremic synd; HNF1B gene (en)
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