父母亲高同型半胱氨酸血症与子女先天性心脏病的相关性研究  

Study on the relationship between the parents with hyperhomocysteinemia(Hhe)and their children with congenital heart diseases

作　　者：刘虹[1] 李松[1] 叶鸿瑁[1] 韩玲[2] 孟昭亨[3] 李勇[3] 

机构地区：[1]北京大学第三医院儿科,北京100083 [2]北京市安贞医院小儿心脏科 [3]北京大学生育健康研究所

出　　处：《临床儿科杂志》2002年第2期103-105,共3页Journal of Clinical Pediatrics

基　　金：国家教委博士点基金资助 (编号 :1999002414)

摘　　要：为研究父母亲高同型半胱胺酸血症 (Hhe)与子女先天性心脏病(CHD)的相关性 ,选择33例正常儿童父母亲和49例CHD患儿父母亲 ,应用高压液相色谱检测血浆同型半胱氨酸 (HCY)。结果显示 ,如以15μmol/L为正常上限 ,CHD母亲组发生Hhe11/32例 (34.38 % ) ,对照组未见异常 ,χ2检验差异有高度显著性(P=0.0014) ;CHD父亲组发生Hhe9/17例(52.94%) ,对照组仅1例 ,差异有显著性(P=0.04)。病例组中有CHD家族史的父母亲发生Hhe者占83.3 %(5/6例) ,高于无CHD家族史的Hhe发生率36.9 %(15/43例) ,P=0.035。结果表明 ,父母亲Hhe与子女CHD有相关性 ,Hhe可能是子女发生CHD的病因之一 ;具有CHD家族史的父母亲更易发生Hhe。To explore the relationship between the parents with hyperhomocysteinemia and their children with congenital heart diseases(CHD).HPLC technique was used to measure the level of the total plasma hyperhomocyteine(HCY)in 49 parents with CHD and 33 parents with normal children as control group.With 15 μmol/L HCY as the normal upper level,11/32 mother with CHD were found to have higher HCY level than this normal level indicating the incidence of HCY in these mothers was 34.38%.with no abnormality in the control group,There is significant difference with χ2 square test (P=0.00014). While in father's group, 9/17 fathers were found to have higher HCY level with the incidence of52.94%.But in control group only one father had high level of HCY accounting for 10%(P=0.04) in the parents with CHD children.The incidence of Hhe in these with CHD family history was higher than in those without CHD family history,accounting for 83.3% and 6.9% respectively(P=0.035).So,these results indicated the hyperhomocysteinemia in these pa_rents has some relationship to the development of the congenital heart diseases in their children,especially for the parents with CHD family history.Suggesting that the hyperhomoysteinemia might be one of the pathogenesis in the development of childhood congenital heart diseases.Based on this study,we proposed that it is better to make mass screening of the HCY and folic acid level for the parents with CHD children and CHD family history and correct the Hhe appropriately.Thus it is possible to prevent CHD and make early diagnosis as well as proper interference treatment in near future.

关 键 词：高同型半胱氨酸血症 先天性心脏病 遗传学 相关性 Hhe CHD 

分 类 号：R725.4[医药卫生—儿科]