Macrovascular involvement in a child with atypical hemolytic uremic syndrome

Kód výsledku v IS VaVaI

RIV/00064203:_____/14:10293028 - isvavai.cz

Nalezeny alternativní kódy

RIV/00216208:11130/14:10293028

Výsledek na webu

http://dx.doi.org/10.1007/s00467-013-2713-3

DOI - Digital Object Identifier

10.1007/s00467-013-2713-3

Jazyk výsledku

angličtina

Název v původním jazyce

Macrovascular involvement in a child with atypical hemolytic uremic syndrome

Popis výsledku v původním jazyce

Atypical hemolytic uremic syndrome (aHUS) is a disorder of the complement system which leads to thrombotic microangiopathy. It is caused by either acquired or hereditary defects in the activation or regulation of the alternative complement pathway and istherefore considered to be a disease of local complement dysregulation in microvasculature with predominantly renal involvement. However, extrarenal manifestations are observed in approximately one-fifth of aHUS patients, with the myocardium and centralnervous system (CNS) being involved most often. Additionally, there have been a few reports of aHUS with cerebral artery stenoses or periphereal gangrene, suggesting the possibility of 'macrovascular' involvement in aHUS. We present a child with early onset aHUS and a C3 gain-of-function mutation who developed cerebral artery stenoses, leading ultimately to death due to a massive stroke 9 days after successful renal transplantation under prophylactic eculizumab treatment. Similar cases

Název v anglickém jazyce

Macrovascular involvement in a child with atypical hemolytic uremic syndrome

Popis výsledku anglicky

Atypical hemolytic uremic syndrome (aHUS) is a disorder of the complement system which leads to thrombotic microangiopathy. It is caused by either acquired or hereditary defects in the activation or regulation of the alternative complement pathway and istherefore considered to be a disease of local complement dysregulation in microvasculature with predominantly renal involvement. However, extrarenal manifestations are observed in approximately one-fifth of aHUS patients, with the myocardium and centralnervous system (CNS) being involved most often. Additionally, there have been a few reports of aHUS with cerebral artery stenoses or periphereal gangrene, suggesting the possibility of 'macrovascular' involvement in aHUS. We present a child with early onset aHUS and a C3 gain-of-function mutation who developed cerebral artery stenoses, leading ultimately to death due to a massive stroke 9 days after successful renal transplantation under prophylactic eculizumab treatment. Similar cases

Druh

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

CEP obor

FG - Pediatrie

OECD FORD obor

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Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2014

Kód důvěrnosti údajů

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

Název periodika

Pediatric Nephrology

ISSN

0931-041X

e-ISSN

—

Svazek periodika

29

Číslo periodika v rámci svazku

7

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

5

Strana od-do

1273-1277

Kód UT WoS článku

000336434600020

EID výsledku v databázi Scopus

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