Genetics of hemolytic uremic syndromes

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11130/12:8623

Výsledek na webu

<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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Jazyk výsledku

angličtina

Název v původním jazyce

Genetics of hemolytic uremic syndromes

Popis výsledku v původním jazyce

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,

Název v anglickém jazyce

Genetics of hemolytic uremic syndromes

Popis výsledku anglicky

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,

Druh

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

CEP obor

FG - Pediatrie

OECD FORD obor

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Projekt

<a href="/cs/project/NT11457" target="_blank" >NT11457: Multigenní etiologie dědičných chorob ledvin u dětí: polycystóza ledvin a atypický hemolyticko uremický syndrom</a><br>

Návaznosti

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

Rok uplatnění

2012

Kód důvěrnosti údajů

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

Název periodika

Presse Medicale

ISSN

0755-4982

e-ISSN

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Svazek periodika

41

Číslo periodika v rámci svazku

3

Stát vydavatele periodika

FR - Francouzská republika

Počet stran výsledku

10

Strana od-do

"e105"-"e114"

Kód UT WoS článku

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EID výsledku v databázi Scopus

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