Plasma Homocysteine Levels, Methylene Tetrahydrofolate Reductase Polymorphisms, and the Risk of Thromboembolism in Children
Plasma Homocysteine Levels, Methylene Tetrahydrofolate Reductase Polymorphisms, and the Risk of Thromboembolism in Children
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DOI：
10.1097/mph.0b013e318219324f
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发表时间：
2011-07-01
影响因子：
1.2
通讯作者：
Rajpurkar, Madhvi
中科院分区：
文献类型：
--
作者：
Nahar, Akash;Sabo, Cynthia;Rajpurkar, Madhvi
简介：高同型半胱氨酸血症（HHcy）是成人血栓形成的危险因素。亚甲基四氢叶酸还原酶（MTHFR）的多态性可能导致HHcy。他们在儿科血栓栓塞（TE）的作用的数据是sparsely.Materials和方法：从1989年到2007年，记录TE的患者图表进行了审查。同型半胱氨酸（Hcy）水平被定义为根据成人正常范围和特定年龄的正常范围从literary.Results：共141例患者（67名女性，74名男性）。根据年龄特异性Hcy正常值范围，15例患者被发现患有HHcy：6例患有CT，9例患有CC，没有人患有TT MTHFR基因型。当使用成人正常范围时，在7例患者中观察到HHcy（> 12 μ mol/L）：4例具有CT基因型，3例具有CC基因型。同样，没有人有TT基因型。此外，平均Hcy水平不受性别和种族的影响，但普遍补充叶酸（1996年后）降低了平均值。结论：（1）在儿科中，应使用特定的Hcy范围以准确诊断HHcy。(2)MTHFR C677 T多态性不是儿童TE的危险因素。(3)补充叶酸可降低高同型半胱氨酸的患病率。
Introduction: Hyperhomocystenemia (HHcy) is a risk factor for thrombosis in adults. Polymorphisms in methylene tetrahydrofolate reductase (MTHFR) enzyme may cause HHcy. Data on their role in pediatric thromboembolism (TE) are sparse.Materials and Methods: Charts of patients from 1989 to 2007, with documented TE, were reviewed. Homocysteine (Hcy) levels were defined both as per the adult normal range and the age-specific normal ranges from literature.Results: A total of 141 patients (67 females, 74 males) were identified. With age-specific normal ranges for Hcy, 15 patients were found to have HHcy: 6 had CT, 9 patients had CC, and none had TT MTHFR genotype. When adult normal range was used, HHcy (> 12 mu mol/L) was seen in 7 patients: 4 had CT and 3 had the CC genotype. Again, none had TT genotype. In addition, the mean Hcy levels were unaffected by sex and ethnicities, but universal folic acid supplementation (post 1996) lowered the mean.Conclusions: (1) Age-specific ranges for Hcy should be used in pediatrics for accurate diagnosis of HHcy. (2) MTHFR C677T polymorphism is not a risk factor in pediatric TE. (3) Folic acid supplementation could play a role in lowering the prevalence of HHcy.