Factor H, membrane cofactor protein, and factor I mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome.
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.
Fakhouri
Fadi
F
Department of Nephrology, Assistance Publique-Hopitaux de Paris, Hôpital Necker, Université Paris Descartes, Inserm U845, Paris, France. fadi.fakhouri@nck.aphp.fr
Jablonski
Mathieu
M
Lepercq
Jacques
J
Blouin
Jacques
J
Benachi
Alexandra
A
Hourmant
Maryvonne
M
Pirson
Yves
Y
Dürrbach
Antoine
A
Grünfeld
Jean-Pierre
JP
Knebelmann
Bertrand
B
Frémeaux-Bacchi
Véronique
V
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
D051916:Membrane Cofactor Protein; D017242:Complement Factor H; D005340:Fibrinogen; D003165:Complement System Proteins