Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F13%3A10173560" target="_blank" >RIV/00216208:11110/13:10173560 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/13:10173560

Výsledek na webu

<a href="http://dx.doi.org/10.1186/1471-2369-14-59" target="_blank" >http://dx.doi.org/10.1186/1471-2369-14-59</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1186/1471-2369-14-59" target="_blank" >10.1186/1471-2369-14-59</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele

Popis výsledku v původním jazyce

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of inherited kidney disease that results in renal failure. ADPKD is a systemic disorder with cysts and connective tissue abnormalities involving many organs. ADPKD caused by mutations in PKD1 gene is significantly more severe than the cases caused by PKD2 gene mutations. The large intra-familial variability of ADPKD highlights a role for genetic background. Case presentation: Here we report a case of ADPKD family initially appearing unlinked to the PKD1 or PKD2 loci and the influence of mosaicism and hypomorphic allele on the variability of the clinical course of the disease. A grandmother with the PKD1 gene mutation in mosaicism (p.Val1105ArgfsX4) and with mild clinical course of ADPKD (end stage renal failure at the age of 77) seemed to have ADPKD because of PKD2 gene mutation. On the other hand, her grandson had a severe clinical course (end stage renal disease at the age of 45) in spite of the

Název v anglickém jazyce

Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele

Popis výsledku anglicky

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of inherited kidney disease that results in renal failure. ADPKD is a systemic disorder with cysts and connective tissue abnormalities involving many organs. ADPKD caused by mutations in PKD1 gene is significantly more severe than the cases caused by PKD2 gene mutations. The large intra-familial variability of ADPKD highlights a role for genetic background. Case presentation: Here we report a case of ADPKD family initially appearing unlinked to the PKD1 or PKD2 loci and the influence of mosaicism and hypomorphic allele on the variability of the clinical course of the disease. A grandmother with the PKD1 gene mutation in mosaicism (p.Val1105ArgfsX4) and with mild clinical course of ADPKD (end stage renal failure at the age of 77) seemed to have ADPKD because of PKD2 gene mutation. On the other hand, her grandson had a severe clinical course (end stage renal disease at the age of 45) in spite of the

Druh

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

CEP obor

FE - Ostatní obory vnitřního lékařství

OECD FORD obor

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Projekt

<a href="/cs/project/NR9427" target="_blank" >NR9427: Záchyt mutací v duplikované oblasti genu PKD1 v rodinách s autosomálně dominantně dědičnou polycystickou chorobou ledvin</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2013

Kód důvěrnosti údajů

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

Název periodika

BMC Nephrology

ISSN

1471-2369

e-ISSN

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Svazek periodika

14

Číslo periodika v rámci svazku

Mar 15

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

6

Strana od-do

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Kód UT WoS článku

000317231400001

EID výsledku v databázi Scopus

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