Genetics of hemolytic uremic syndromes

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F12%3A8623" target="_blank" >RIV/00064203:_____/12:8623 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/12:8623
Result on the web
<a href="http://dx.doi.org/10.1016/j.lpm.2011.10.028" target="_blank" >http://dx.doi.org/10.1016/j.lpm.2011.10.028</a>
DOI - Digital Object Identifier
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Result language
angličtina
Original language name
Genetics of hemolytic uremic syndromes
Original language description
Hemolytic uremic syndrome (HUS) is a very rare disease (two cases per year per 1 million population) but represents the most common cause of acute renal failure in young children that require dialysis. The majority of cases in childhood (90%) is caused by Shiga toxin producing Escherichia coli infection. This typical form of the disease does not relapse and has a good prognosis if the acute status can be managed successfully. Atypical HUS (aHUS) is a severe and frequently relapsing disorder with the same triad of thrombocytopenia, hemolysis and acute renal failure in the absence of Shiga toxin E. coli infection. More than 50% of patients with atypical HUS progress to chronic renal dysfunction and 10% die due to complications of the disease. Atypical HUS appears to have a genetic basis. Mutations in genes coding for components of the alternative complement pathway are found in about 60% of cases. The clinical presentation of aHUS overlaps with that of other thrombotic microangiopathies,
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FG - Paediatrics
OECD FORD branch
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Project
<a href="/en/project/NT11457" target="_blank" >NT11457: Multigenic etiology in hereditary kidney disorders in children: polycystic kidney disease and atypical HUS</a><br>
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

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