PKD2 mutace v české populaci s autozomálně dominantním polycystickým onemocnění jater.

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F04%3A00010416" target="_blank" >RIV/00216224:14310/04:00010416 - isvavai.cz</a>

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

PKD2 Mutations in Czech Population with Autosomal Dominant Polycystic Kidney Disease

Popis výsledku v původním jazyce

Abstract: Background. Autosomal dominant polycystic kidney disease (ADPKD) is genetically heterogeneous disease caused by mutations in at least three different loci. Mutations in the PKD2 gene are responsible for about 15% cases of the disease, based onlinkage analysis. PKD2 linked ADPKD is supposed to be milder form of the disease, with a mean age of end-stage renal failure (ESRF) approximately 20 years later than PKD1. Methods. We screened all coding sequences of the PKD2 gene in 115 Czech patients.52 patients (29 males, 23 females) who reached ESRF after 63 years of age and 10 patients who were not undergoing renal replacement therapy at that age (3 males, 7 females) were selected from dialysis centers from Czech Republic and from Department of Nephrology of General Hospital in Prague. The age 63 years was used as the cutoff value because it is between the age of onset of ESRF for PKD1 and PKD2 published in recent studies. 53 patients (26 males, 27 females) were selected from the

Název v anglickém jazyce

PKD2 Mutations in Czech Population with Autosomal Dominant Polycystic Kidney Disease

Popis výsledku anglicky

Abstract: Background. Autosomal dominant polycystic kidney disease (ADPKD) is genetically heterogeneous disease caused by mutations in at least three different loci. Mutations in the PKD2 gene are responsible for about 15% cases of the disease, based onlinkage analysis. PKD2 linked ADPKD is supposed to be milder form of the disease, with a mean age of end-stage renal failure (ESRF) approximately 20 years later than PKD1. Methods. We screened all coding sequences of the PKD2 gene in 115 Czech patients.52 patients (29 males, 23 females) who reached ESRF after 63 years of age and 10 patients who were not undergoing renal replacement therapy at that age (3 males, 7 females) were selected from dialysis centers from Czech Republic and from Department of Nephrology of General Hospital in Prague. The age 63 years was used as the cutoff value because it is between the age of onset of ESRF for PKD1 and PKD2 published in recent studies. 53 patients (26 males, 27 females) were selected from the

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

<a href="/cs/project/LN00A016" target="_blank" >LN00A016: BIOMOLEKULÁRNÍ CENTRUM</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2004

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Nephrology Dialysis Transplantation

ISSN

1460-2385

e-ISSN

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Svazek periodika

2004

Číslo periodika v rámci svazku

19

Stát vydavatele periodika

CZ - Česká republika

Počet stran výsledku

7

Strana od-do

1116-1122

Kód UT WoS článku

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EID výsledku v databázi Scopus

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