Smith T J, Hess S Y
Institute for Global Nutrition University of California Davis Davis CA USA.
Nutr Bull. 2021 Mar;46(1):12-25. doi: 10.1111/nbu.12481. Epub 2021 Jan 11.
Infantile beriberi, a potentially fatal disorder caused by thiamine deficiency, is often viewed as a disease confined to history in regions of the world with predominant white rice consumption. Recent case reports have, however, highlighted the persistence of thiamine deficiency as a cause of infant mortality in South and Southeast Asia. Low infant thiamine status and incidence of beriberi is attributable to maternal thiamine deficiency and insufficient breast milk thiamine. Poor dietary diversity, food preparation and cooking practices and traditional post-partum food restrictions likely play a role in these high-risk regions. Given the contribution of thiamine deficiency to infant mortality and emerging evidence of long-lasting neurodevelopmental deficits of severe and even subclinical deficiency in early life, public health strategies to prevent thiamine deficiency are urgently needed. However, efforts are hampered by uncertainties surrounding the identification and assessment of thiamine deficiency, due to the broad non-specific clinical manifestations, commonly referred to as thiamine deficiency disorders (TDD), that overlap with other conditions resulting in frequent misdiagnosis and missed treatment opportunities, and secondly the lack of readily available and agreed upon biomarker analysis and cut-off thresholds. This review will discuss the key challenges and limitations in the current understanding of TDD and explore how ongoing initiatives plan to fill persistent knowledge gaps, namely in the development of a standardised case definition to help more accurately diagnose and treat TDD in low-resource settings. Given more attention and ensuring greater recognition of TDD will support the design and implementation of treatment and prevention programmes, and ensure beriberi can truly be considered 'the forgotten disease of Asia'.
婴儿脚气病是一种由硫胺素缺乏引起的潜在致命疾病,在世界上以食用白米为主的地区,它常被视为一种只存在于历史中的疾病。然而,最近的病例报告强调,在南亚和东南亚,硫胺素缺乏仍是婴儿死亡的一个原因。婴儿硫胺素水平低和脚气病发病率高归因于母亲硫胺素缺乏以及母乳中硫胺素不足。在这些高风险地区,不良的饮食多样性、食物制备和烹饪习惯以及传统的产后食物限制可能起到了一定作用。鉴于硫胺素缺乏对婴儿死亡率的影响,以及越来越多的证据表明,严重甚至亚临床缺乏在生命早期会导致长期的神经发育缺陷,迫切需要采取公共卫生策略来预防硫胺素缺乏。然而,由于硫胺素缺乏的识别和评估存在不确定性,相关工作受到了阻碍。一方面,硫胺素缺乏的临床表现广泛且不具特异性,通常被称为硫胺素缺乏症(TDD),这些表现与其他病症重叠,导致频繁误诊和错过治疗机会;另一方面,缺乏现成且得到认可的生物标志物分析方法和临界值。本综述将讨论当前对TDD理解中的关键挑战和局限性,并探讨正在进行的倡议计划如何填补持续存在的知识空白,即在制定标准化病例定义以帮助在资源匮乏地区更准确地诊断和治疗TDD方面。给予更多关注并确保对TDD有更高的认识,将有助于支持治疗和预防方案的设计与实施,并确保脚气病真正能够被视为“亚洲被遗忘的疾病”。