Hyánek J, Stríbrný J, Sebesta P, Klika M, Kramár J, Kozich V, Martiníková V, Machácková L, Orendác M, Loucka M, Dubská L, Pejznochová H, Táborský L, Cabrnochová I
Oddĕlení klinické biochemie, Metabolická ambulance, Nemocnice na Homolce Praha.
Cas Lek Cesk. 1999 May 24;138(11):333-6.
A rise of the homocysteine plasma level--mild hyperhomocysteinaemia--is considered an independent risk factor for the development of vascular damage. It is due to hereditary deficiency of 5,10-methylene-tetrahydrofolate reductase with accentuation of vitamin deficiency (folic acid, vitamin B6 and B12). In previous studies the authors confirmed this fact in the population of patients with aortocoronary or peripheral arterial bypasses. The assumed autosomal recessive transmission of this deficiency should make it possible to detect carriers of this metabolic deviation already in childhood. By selective screening of the child population at risk it would thus be possible to detect affected subjects in time and prevent the development of vascular disease by preventive folate administration.
In a group of 38 children and grandchildren from risk families where at least one of the parents or grandparents was operated on account of vascular obliterating disease the total homocysteine plasma level was examined by the chromatographic method. An increase of total homocystein (8.7 +/- 2.7 mumol/l) was found as compared with children from the non-risk population (5.4 +/- 1.8 mumol/l), (p < 0.001). The total homocysteine values however were dependent on the child's age and were more marked in children above 12 years of age. In the parental population mild hyperhomocysteinaemia was present in 38% of those with aortocoronary bypasses and in 43% of those with peripheral arterial bypasses.
The authors found significantly elevated total homocysteine levels in the child population from risk families with obliterating vascular disease. The total homocysteine level depends on the child's age and is more markedly expressed in children above 12 years of age.
血浆同型半胱氨酸水平升高——轻度高同型半胱氨酸血症——被认为是血管损伤发生的一个独立危险因素。它是由于5,10 - 亚甲基四氢叶酸还原酶遗传性缺乏以及维生素（叶酸、维生素B6和B12）缺乏加剧所致。在先前的研究中，作者在接受主动脉冠状动脉或外周动脉搭桥手术的患者群体中证实了这一事实。这种缺乏症假定为常染色体隐性遗传，这应该使得在儿童时期就能检测到这种代谢偏差的携带者。通过对高危儿童群体进行选择性筛查，从而有可能及时发现受影响的个体，并通过预防性补充叶酸来预防血管疾病的发生。
在一组来自高危家庭的38名儿童和孙子女中，这些家庭中至少有一位父母或祖父母因血管闭塞性疾病接受了手术，采用色谱法检测了血浆总同型半胱氨酸水平。与非高危人群的儿童（5.4±1.8μmol/l）相比，发现总同型半胱氨酸有所升高（8.7±2.7μmol/l），（p<0.001）。然而，总同型半胱氨酸值取决于儿童的年龄，在12岁以上的儿童中更为明显。在父母群体中，38%接受主动脉冠状动脉搭桥手术的患者以及43%接受外周动脉搭桥手术的患者存在轻度高同型半胱氨酸血症。
作者发现，来自患有闭塞性血管疾病的高危家庭的儿童群体中，总同型半胱氨酸水平显著升高。总同型半胱氨酸水平取决于儿童的年龄，在12岁以上的儿童中表现更为明显。
