Molecular genetics of preeclampsia and HELLP syndrome - A review

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

卷:1822

Review

Jebbink, Jiska^1,2  Wolters, Astrid²  Fernando, Febilla^2,3  Afink, Gijs²  van der Post, Joris¹  Ris-Stalpers, Carrie^1,2 

[1] Univ Amsterdam, Acad Med Ctr, Womens & Childrens Clin, NL-1100 DD Amsterdam, Netherlands

[2] Univ Amsterdam, Acad Med Ctr, Reprod Biol Lab, NL-1100 DD Amsterdam, Netherlands

[3] Univ Glasgow, Sch Med, Dept Med Genet, Glasgow G12 8QQ, Lanark, Scotland

关键词: Preeclampsia;    HELLP syndrome;    IUGR;    Pregnancy;    Gene;   

DOI  :  10.1016/j.bbadis.2012.08.004

来源: Elsevier

【 摘 要 】

Preeclampsia is characterised by new onset hypertension and proteinuria and is a major obstetrical problem for both mother and foetus. Haemolysis elevated liver enzymes and low platelets (HELLP) syndrome is an obstetrical emergency and most cases occur in the presence of preeclampsia. Preeclampsia and HELLP are complicated syndromes with a wide variety in severity of clinical symptoms and gestational age at onset. The pathophysiology depends not only on periconceptional conditions and the foetal and placental genotype, but also on the capability of the maternal system to deal with pregnancy. Genetically, preeclampsia is a complex disorder and despite numerous efforts no clear mode of inheritance has been established. A minor fraction of HELLP cases is caused by foetal homozygous LCHAD deficiency, but for most cases the genetic background has not been elucidated yet. At least 178 genes have been described in relation to preeclampsia or HELLP syndrome. Confined placental mosaicism (CPM) is documented to cause early onset preeclampsia in some cases; the overall contribution of CPM to the occurrence of preeclampsia has not been adequately investigated yet. This article is part of a Special Issue entitled: Molecular Genetics of Human Reproductive Failure. (C) 2012 Elsevier B.V. All rights reserved.

【 授权许可】

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