Manifestation of atypical hemolytic uremic syndrome caused by novel mutations in MCP.

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023736%3A_____%2F12%3A00009173" target="_blank" >RIV/00023736:_____/12:00009173 - isvavai.cz</a>

Alternative codes found

RIV/00064203:_____/12:8054 RIV/00216208:11130/12:8054

Result on the web

<a href="http://dx.doi.org/10.1007/s00467-011-1943-5" target="_blank" >http://dx.doi.org/10.1007/s00467-011-1943-5</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s00467-011-1943-5" target="_blank" >10.1007/s00467-011-1943-5</a>

Result language

angličtina

Original language name

Manifestation of atypical hemolytic uremic syndrome caused by novel mutations in MCP.

Original language description

Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. We have analyzed most of the genes encoding regulators of the alternative complement pathway are connected with this disease (CFH, CFI, MCP, and C3) in a cohort of 10 unrelated Czech patients with clinically diagnosed familial aHUS. We found and characterized four unique mutations in the MCP gene in 4 patients. The phenotype of the patients and theirclose relatives (14 individuals) was also investigated. We confirmed the importance of MCP in the development of aHUS and the role of risk polymorphisms as an additional susceptibility factor influencing penetrance of the disease

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

FG - Paediatrics

OECD FORD branch

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Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

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

Publication year

2012

Confidentiality

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

Name of the periodical

Pediatric Nephrology

ISSN

0931-041X

e-ISSN

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Volume of the periodical

27

Issue of the periodical within the volume

1

Country of publishing house

US - UNITED STATES

Number of pages

13

Pages from-to

73-81

UT code for WoS article

000297546000011

EID of the result in the Scopus database

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