Factor H, membrane cofactor protein, and factor I mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome. Fakhouri, F., Jablonski, M., Lepercq, J., Blouin, J., Benachi, A., Hourmant, M., Pirson, Y., Durrbach, A., Grunfeld, J. P., Knebelmann, B., & Fremeaux-Bacchi, V. Blood, 112(12):4542–5, December, 2008.
Factor H, membrane cofactor protein, and factor I mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome [link]Paper  abstract   bibtex   
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.
@article{fakhouri_factor_2008,
	title = {Factor {H}, membrane cofactor protein, and factor {I} mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome},
	volume = {112},
	issn = {1528-0020 (ELECTRONIC) 0006-4971 (LINKING)},
	shorttitle = {Factor {H}, membrane cofactor protein, and factor {I} mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome},
	url = {http://www.ncbi.nlm.nih.gov/pubmed/18658028},
	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.},
	number = {12},
	journal = {Blood},
	author = {Fakhouri, F. and Jablonski, M. and Lepercq, J. and Blouin, J. and Benachi, A. and Hourmant, M. and Pirson, Y. and Durrbach, A. and Grunfeld, J. P. and Knebelmann, B. and Fremeaux-Bacchi, V.},
	month = dec,
	year = {2008},
	keywords = {Adult Antigens, CD46/*genetics Complement Factor H/*genetics Complement System Proteins/genetics DNA Mutational Analysis Female Fibrinogen/*genetics Genetic Predisposition to Disease Gestational Age HELLP Syndrome/*genetics Humans *Mutation, Missense Pregnancy Risk Factors Young Adult},
	pages = {4542--5}
}
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