PKD2 Mutations in Czech Population with Autosomal Dominant Polycystic Kidney Disease

Result code in 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>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

PKD2 Mutations in Czech Population with Autosomal Dominant Polycystic Kidney Disease

Original language description

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

Czech name

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

Czech description

Autozomálně dominantní polycystické onemocnění jater (ADPKD) je geneticky heterigenní onemocnění způsobené minimálně třemi různými lokusy. Podle vazebné analýzy mutace v PKD2 genu způsobují přibližně 15% případů onemocnění.

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

<a href="/en/project/LN00A016" target="_blank" >LN00A016: BIOMOLECULAR CENTER</a><br>

Continuities

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

Publication year

2004

Confidentiality

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

Name of the periodical

Nephrology Dialysis Transplantation

ISSN

1460-2385

e-ISSN

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Volume of the periodical

2004

Issue of the periodical within the volume

19

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

7

Pages from-to

1116-1122

UT code for WoS article

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EID of the result in the Scopus database

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