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首页> 外文期刊>The American Journal of Clinical Nutrition: Official Journal of the American Society for Clinical Nutrition >Biomarkers of cobalamin (vitamin B-12) status in the epidemiologic setting: a critical overview of context, applications, and performance characteristics of cobalamin, methylmalonic acid, and holotranscobalamin II.
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Biomarkers of cobalamin (vitamin B-12) status in the epidemiologic setting: a critical overview of context, applications, and performance characteristics of cobalamin, methylmalonic acid, and holotranscobalamin II.

机译：流行病学中钴胺素（维生素B-12）状态的生物标志物：钴胺素，甲基丙二酸和全反钴胺素II的背景，应用和性能特征的重要概述。

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摘要

Cobalamin deficiency is relatively common, but the great majority of cases in epidemiologic surveys have subclinical cobalamin deficiency (SCCD), not classical clinical deficiency. Because SCCD has no known clinical expression, its diagnosis depends solely on biochemical biomarkers, whose optimal application becomes crucial yet remains unsettled. This review critically examines the current diagnostic concepts, tools, and interpretations. Their exploration begins with understanding that SCCD differs from clinical deficiency not just in degree of deficiency but in fundamental pathophysiology, causes, likelihood and rate of progression, and known health risks (the causation of which by SCCD awaits proof by randomized clinical trials). Conclusions from SCCD data, therefore, often may not apply to clinical deficiency and vice versa. Although many investigators view cobalamin testing as unreliable, cobalamin, like all diagnostic biomarkers, performs satisfactorily in clinical deficiency but less well in SCCD. The lack of a diagnostic gold standard limits the ability to weigh the performance characteristics of metabolic biomarkers such as methylmalonic acid (MMA) and holotranscobalamin II, whose specificities remain incompletely defined outside their relations to each other. Variable cutoff selections affect diagnostic conclusions heavily and need to be much better rationalized. The maximization of reliability and specificity of diagnosis is far more important today than the identification of ever-earlier stages of SCCD. The limitations of all current biomarkers make the combination of >/=2 test result abnormalities, such as cobalamin and MMA, the most reliable approach to diagnosing deficiency in the research setting; reliance on one test alone courts frequent misdiagnosis. Much work remains to be done.
机译：钴胺素缺乏症相对普遍，但是在流行病学调查中，大多数病例具有亚临床型钴胺素缺乏症（SCCD），而不是经典的临床缺陷症。由于SCCD没有已知的临床表达，其诊断仅取决于生化生物标志物，其最佳应用至关重要，但尚未解决。这篇评论严格审查了当前的诊断概念，工具和解释。他们的探索始于理解，SCCD与临床缺陷不仅在缺陷程度上不同，而且在基本病理生理学，病因，进展的可能性和速率以及已知的健康风险方面有所不同（SCCD的原因尚待随机临床试验证明）。因此，来自SCCD数据的结论通常可能不适用于临床缺陷，反之亦然。尽管许多研究人员认为钴胺素检测不可靠，但钴胺素像所有诊断性生物标志物一样，在临床缺乏时表现令人满意，但在SCCD中效果较差。缺乏诊断性金标准限制了衡量诸如甲基丙二酸（MMA）和全反钴胺素II之类的代谢生物标记物的性能特征的能力，它们的特异性在彼此之间的关系之外仍未完全确定。可变的临界值选择会严重影响诊断结论，因此需要更好地合理化。今天，最大程度地提高诊断的可靠性和特异性比确定SCCD的早期阶段更为重要。当前所有生物标志物的局限性使得> / = 2的检测结果异常组合在一起，例如钴胺素和MMA，这是诊断研究环境中缺陷的最可靠方法;仅仅依靠一项测试就容易导致误诊。还有很多工作要做。

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