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

Result code in 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>

Alternative codes found

RIV/00064165:_____/13:10173560

Result on the web

<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>

Result language

angličtina

Original language name

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

Original language description

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

Czech name

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Czech description

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Type

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

CEP classification

FE - Other fields of internal medicine

OECD FORD branch

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Project

<a href="/en/project/NR9427" target="_blank" >NR9427: Screening of mutations in the duplicated region of the PKD1 gene from families with autosomal dominant polycystic kidney disease</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2013

Confidentiality

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

Name of the periodical

BMC Nephrology

ISSN

1471-2369

e-ISSN

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Volume of the periodical

14

Issue of the periodical within the volume

Mar 15

Country of publishing house

GB - UNITED KINGDOM

Number of pages

6

Pages from-to

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UT code for WoS article

000317231400001

EID of the result in the Scopus database

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