title: Factor H, membrane cofactor protein, and factor I mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome.
abstract: 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.
authors.affiliation: Department of Nephrology, Assistance Publique-Hopitaux de Paris, Hôpital Necker, Université Paris Descartes, Inserm U845, Paris, France. fadi.fakhouri@nck.aphp.fr
authors.forename: Fadi
authors.initials: F
authors.lastname: Fakhouri
authors.forename: Mathieu
authors.initials: M
authors.lastname: Jablonski
authors.forename: Jacques
authors.initials: J
authors.lastname: Lepercq
authors.forename: Jacques
authors.initials: J
authors.lastname: Blouin
authors.forename: Alexandra
authors.initials: A
authors.lastname: Benachi
authors.forename: Maryvonne
authors.initials: M
authors.lastname: Hourmant
authors.forename: Yves
authors.initials: Y
authors.lastname: Pirson
authors.forename: Antoine
authors.initials: A
authors.lastname: Dürrbach
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Grünfeld
authors.forename: Bertrand
authors.initials: B
authors.lastname: Knebelmann
authors.forename: Véronique
authors.initials: V
authors.lastname: Frémeaux-Bacchi
mesh_terms: D000328:Adult; D017242:Complement Factor H / Q000235:genetics*; D003165:Complement System Proteins / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005340:Fibrinogen / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005865:Gestational Age; D017359:HELLP Syndrome / Q000235:genetics*; D006801:Humans; D051916:Membrane Cofactor Protein / Q000235:genetics*; D020125:Mutation, Missense; D011247:Pregnancy; D012307:Risk Factors; D055815:Young Adult
chemical_list: D051916:Membrane Cofactor Protein; D017242:Complement Factor H; D005340:Fibrinogen; D003165:Complement System Proteins