溶血、肝酶升高及低血小板计数综合征与脂肪酸氧化障碍是否缺乏的相关性

作     者：Holub M. Bodamer O. A. Item C. Stckler-lpsiroglu 李开 

作者机构：Department of Paediatrics University Hospital Vienna Whringer Gürtel 18-20 A-1090 Vienna Austria 

出 版 物：《世界核心医学期刊文摘（儿科学分册）》 (Dkgest of the World Latest Medical Information)

年 卷 期：2005年第1卷第6期

页      面：6-7页

学科分类：1001[医学-基础医学(可授医学、理学学位)] 100104[医学-病理学与病理生理学] 10[医学] 

主　　题：肝酶升高 脂肪酸氧化障碍 β氧化 妊娠并发症 代谢性疾病 脱氢酶基因 肉毒碱 羟氨 腹内 缺失性 

摘      要：Aim: Fatty acid β-oxidation defects comprise a heterogeneous group of disorders that may precipitate acute life threatening metabolic crises particularly during catabolic episodes. Several studies have demonstrated a possible association between fatty acid β-oxidation defects, including long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and severe pregnancy complications. However, the precise percentage of women with haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome associated with foetal fatty acid β-oxidation defects is not known. Methods: We carried out amulticentre retrospective study on 88 infants, born to women with HELLP syndrome. Acylcarnitine profiles from blood dried on filter paper cards were analysed by tandem mass spectrometry for the diagnosis of fatty acid β-oxidation defects. In addition, we screened for the common long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency mutation using a standard restriction fragment length polymorphism polymerase chain reaction method. Results: None of the infants studied carried the common long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency mutation. There was no evidence of fatty acid β-oxidation defects, including long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, as expected by unremarkable acylcarnitine profiles, while three infants with fatty acid β-oxidation defects were diagnosed in the control group. Conclusions: Neither foetal long-chain 3- hydroxyacyl-CoA dehydrogenase deficiency, including heterozygosity for the common long-chain 3-hydroxyacyl- CoA dehydrogenase deficiency mutation, nor fatty acid β-oxidation defects in general are a major risk factor for HELLP syndrome in Austria.