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首页> 外文期刊>Clinical Biochemistry >An unusually high plasma concentration of homocysteine resulting from a combination of so-called 'secondary' etiologies
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An unusually high plasma concentration of homocysteine resulting from a combination of so-called 'secondary' etiologies

机译：由所谓的“二次”病因的组合产生的异常高血浆浓度为所谓的“二次”病因

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The metabolism of homocysteine is complex and involves many enzymes as well as vitamin-derived cofactors. Any dysregulation of this metabolism may lead to hyperhomocysteinemia (HHCy) which is responsible for many clinical disorders including thromboembolic events. HHCy may result from very different etiologies and is generally classified into three groups according to homocysteine concentrations: moderate ( 100 mu mol/L). Major HHCy cases are generally due to monogenic defects of key enzymes involved in homocysteine metabolism, such as cystathionine-beta-synthase or 5,10-methylenetetrahydrofolate reductase, or to any defect in vitamin B-12 absorption, transport or metabolism. By contrast, moderate and intermediate HHCy tend to result from so-called "secondary" etiologies (e.g. tobacco, drugs, alcohol, vitamin deficiencies or pathological contexts). Here we describe the case of a patient with an unusually high plasma homocysteine concentration (1562 mu mol/L) which was only explained by a combination of such secondary etiologies, among them chronic renal failure, hypothyroidism, the homozygous C677T MTHFR variant, a novel heterozygous variant of the MSR gene, and a vitamin deficiency. In addition, this patient exhibited a spectacular decline in homocysteine concentrations (returning to normal) after betaine and vitamin administration. In conclusion, this case highlights that major HHCy may also result from the combination of secondary etiologies, with vitamin deficiency as a triggering factor.
机译：同型半胱氨酸的代谢是复杂的，涉及许多酶以及维生素衍生的辅助型剂。这种新陈代谢的任何呼吸困难可能导致过量抑制因素（HHCy），其负责许多临床疾病，包括血栓栓塞事件。 Hhcy可能由非常不同的病因产生，并且通常根据同型半胱氨酸浓度分为三组：中度（100μmmol/l）。主要的HHCY病例通常是由于涉及同型酶代谢的关键酶的单身缺陷，例如胱硫脲 - β-合酶或5,10-亚甲基四乙酸盐还原酶，或维生素B-12吸收，运输或代谢的任何缺陷。相比之下，中等和中间Hhcy倾向于所谓的“二次”病因（例如烟草，药物，酒精，维生素缺陷或病理背景）。在这里，我们描述了具有异常高的血浆同型素浓度（1562μmol/ L）的患者的患者，该患者仅通过这种次要病因的组合来解释，其中慢性肾功能衰竭，甲状腺功能亢进，纯合的C677T MTHFR变体，一种新颖MSR基因的杂合变体，以及维生素缺乏。此外，该患者在甜菜碱和维生素给药后表现出同型半胱氨酸浓度（恢复正常）的壮观下降。总之，这种情况突出了主要的HHCY可能是次生病因的组合导致维生素缺乏作为触发因子。

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