肾移植受者的高同型半胱氨酸血症与亚甲基四氢叶酸还原酶C677T基因多态性
Hyperhomocysteinaemia and MTHFR C677T gene polymorphism in renal transplant recipients.
作者信息
Szabó A J, Tulassay T, Melegh B, Szabó T, Szabó A, Fekete A, Süveges Z, Reusz G S
机构信息
First Department of Pediatrics, Semmelweis University, Budapest Bókay 53, 1083-Hungary.
出版信息
Arch Dis Child. 2001 Jul;85(1):47-9. doi: 10.1136/adc.85.1.47.
AIM
To study the effect of folate treatment on hyperhomocysteinaemia and the effect of 5,10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphism on total homocysteine and folate concentrations after renal transplantation.
METHODS
A total of 30 transplanted children and adolescents were investigated for total homocysteine and folate serum concentrations before and after folate treatment, as well as for the presence of the MTHFR C677T polymorphism.
RESULTS
The allele frequency of C677T polymorphism in the MTHFR gene in the study population (0.33) was not different to that in controls (0.38). Before folate treatment the homocysteine concentration was raised in all groups; following folate supplementation it was significantly decreased in the CC and CT groups, but not in the TT group. In patients with CC genotype, serum homocysteine correlated with serum creatinine and cholesterol, and time since transplantation before treatment.
CONCLUSION
Folate supplementation appears to be an effective strategy to normalise total homocysteine concentration in renal transplanted children and adolescents.
目的
研究叶酸治疗对高同型半胱氨酸血症的影响以及肾移植后5,10-亚甲基四氢叶酸还原酶（MTHFR）基因多态性对总同型半胱氨酸和叶酸浓度的影响。
方法
共对30名接受移植的儿童和青少年进行了研究，检测了他们在叶酸治疗前后的血清总同型半胱氨酸和叶酸浓度，以及MTHFR C677T基因多态性情况。
结果
研究人群中MTHFR基因C677T多态性的等位基因频率（0.33）与对照组（0.38）无差异。在叶酸治疗前，所有组的同型半胱氨酸浓度均升高；补充叶酸后，CC组和CT组的同型半胱氨酸浓度显著降低，而TT组未降低。在CC基因型患者中，血清同型半胱氨酸与血清肌酐、胆固醇以及治疗前的移植时间相关。
结论
补充叶酸似乎是使肾移植儿童和青少年总同型半胱氨酸浓度恢复正常的有效策略。
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