Lonsdale Derrick
Cleveland Clinic, Cleveland, OH, United States.
Adv Food Nutr Res. 2018;83:1-56. doi: 10.1016/bs.afnr.2017.11.001. Epub 2018 Feb 2.
Starting with a brief history of beriberi and the discovery that thiamin deficiency is its cause, the symptoms and signs are reviewed. None are pathognomonic. The disease has a low mortality and a long morbidity. The appearance of the patient can be deceptive, often being mistaken for psychosomatic disease in the early stages. The chemistry of thiamin and the laboratory methodology for depicting its deficiency are outlined. The diseases associated with thiamin deficiency, apart from malnutrition, include a number of genetically determined conditions where mutations, either in the cofactor relationship or a transporter, provide the etiology. It is emphasized that such mutations are often epigenetically responsive to megadoses of thiamin or one of its derivatives. The use of thiamin in clinical practice requires a high index of suspicion on the part of the clinician since it has a part to play in eating disorders, diabetes, neurodegenerative disease, and cancer. A high rate of critical illness and postsurgery thiamin deficiency have been reported, particularly those associated with gastrointestinal bypass. Emphasis is placed on thiamin deficiency as a major cause of asymmetric dysautonomia, because of the high degree of sensitivity to thiamin deficiency in the brainstem, cerebellum, and hypothalamus. The relationship of thiamin with regional pain syndrome, eosinophilic esophagitis, its analgesic capacity, and its preventive use in obstetrics is raised as a potential issue. The role of thiamin in SIDS and autism is outlined. It is emphasized that megadose thiamin is being used as a drug, either in stimulating the damaged cofactor/enzyme combination, or mitochondria.
本文首先简要介绍了脚气病的历史以及硫胺素缺乏是其病因的发现，随后对症状和体征进行了回顾。这些症状和体征均无特异性。该疾病死亡率低，但发病期长。患者的外表可能具有欺骗性，在疾病早期常被误诊为身心疾病。文中概述了硫胺素的化学性质以及描述其缺乏的实验室方法。除营养不良外，与硫胺素缺乏相关的疾病还包括一些由基因决定的病症，其中辅因子关系或转运体中的突变构成了病因。需要强调的是，此类突变通常在表观遗传上对大剂量硫胺素或其衍生物之一有反应。在临床实践中使用硫胺素时，临床医生需要高度怀疑，因为它在饮食失调、糖尿病、神经退行性疾病和癌症中都有一定作用。据报道，危重病和术后硫胺素缺乏的发生率很高，尤其是与胃肠道旁路手术相关的情况。由于脑干、小脑和下丘脑对硫胺素缺乏高度敏感，因此强调硫胺素缺乏是不对称自主神经功能障碍的主要原因。文中还提出了硫胺素与区域疼痛综合征、嗜酸性食管炎的关系、其镇痛能力以及在产科中的预防性应用等潜在问题。概述了硫胺素在婴儿猝死综合征和自闭症中的作用。需要强调的是，大剂量硫胺素正被用作一种药物，用于刺激受损的辅因子/酶组合或线粒体。
