Factor H, membrane cofactor protein, and factor I mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome

Détails

ID Serval
serval:BIB_FFAC6FA82A1D
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Factor H, membrane cofactor protein, and factor I mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome
Périodique
Blood
Auteur⸱e⸱s
Fakhouri F., Jablonski M., Lepercq J., Blouin J., Benachi A., Hourmant M., Pirson Y., Durrbach A., Grunfeld J. P., Knebelmann B., Fremeaux-Bacchi V.
ISSN
1528-0020 (Electronic)
ISSN-L
0006-4971
Statut éditorial
Publié
Date de publication
2008
Volume
112
Numéro
12
Pages
4542-5
Langue
anglais
Notes
Fakhouri, Fadi
Jablonski, Mathieu
Lepercq, Jacques
Blouin, Jacques
Benachi, Alexandra
Hourmant, Maryvonne
Pirson, Yves
Durrbach, Antoine
Grunfeld, Jean-Pierre
Knebelmann, Bertrand
Fremeaux-Bacchi, Veronique
eng
Multicenter Study
Blood. 2008 Dec 1;112(12):4542-5. doi: 10.1182/blood-2008-03-144691. Epub 2008 Jul 24.
Résumé
The HELLP syndrome, defined by the existence of hemolysis, elevated liver enzymes, and low platelet count, is a serious complication of pregnancy-related hypertensive disorders and shares several clinical and biologic features with thrombotic microangiopathy (TMA). Several recent studies have clearly shown that an abnormal control of the complement alternative pathway is a major risk for the occurrence of a peculiar type of TMA involving mainly the kidney. The aim of this study was to screen for complement abnormalities in 11 patients with HELLP syndrome and renal involvement. We identified 4 patients with a mutation in one of the genes coding for proteins involved in the regulation of the alternative pathway of complement. Our results suggest that an abnormal control of the complement alternative pathway is a risk factor for the occurrence of HELLP syndrome.
Mots-clé
Adult, Complement Factor H/*genetics, Complement System Proteins/genetics, DNA Mutational Analysis, Female, Fibrinogen/*genetics, Genetic Predisposition to Disease, Gestational Age, HELLP Syndrome/*genetics, Humans, Membrane Cofactor Protein/*genetics, *Mutation, Missense, Pregnancy, Risk Factors, Young Adult
Pubmed
Création de la notice
01/03/2022 11:18
Dernière modification de la notice
02/03/2022 7:36
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