钴胺素（维生素B）缺乏的多种表现
The Many Faces of Cobalamin (Vitamin B) Deficiency.
作者信息
Wolffenbuttel Bruce H R, Wouters Hanneke J C M, Heiner-Fokkema M Rebecca, van der Klauw Melanie M
机构信息
Department of Endocrinology, University of Groningen, University Medical Center Groningen, Groningen, NL-9700 RB, The Netherlands.
Department of Haematology, University of Groningen, University Medical Center Groningen, Groningen, NL-9700 RB, The Netherlands.
出版信息
Mayo Clin Proc Innov Qual Outcomes. 2019 May 27;3(2):200-214. doi: 10.1016/j.mayocpiqo.2019.03.002. eCollection 2019 Jun.
Although cobalamin (vitamin B) deficiency was described over a century ago, it is still difficult to establish the correct diagnosis and prescribe the right treatment. Symptoms related to vitamin B deficiency may be diverse and vary from neurologic to psychiatric. A number of individuals with vitamin B deficiency may present with the classic megaloblastic anemia. In clinical practice, many cases of vitamin B deficiency are overlooked or sometimes even misdiagnosed. In this review, we describe the heterogeneous disease spectrum of patients with vitamin B deficiency in whom the diagnosis was either based on low serum B levels, elevated biomarkers like methylmalonic acid and/or homocysteine, or the improvement of clinical symptoms after the institution of parenteral vitamin B therapy. We discuss the possible clinical signs and symptoms of patients with B deficiency and the various pitfalls of diagnosis and treatment.
尽管钴胺素（维生素B）缺乏症在一个多世纪前就已被描述，但目前仍难以做出正确诊断并开出恰当的治疗方案。与维生素B缺乏相关的症状可能多种多样，涵盖从神经症状到精神症状等各个方面。许多维生素B缺乏的个体可能会出现典型的巨幼细胞贫血。在临床实践中，许多维生素B缺乏病例被忽视，有时甚至被误诊。在本综述中，我们描述了维生素B缺乏患者的异质性疾病谱，这些患者的诊断要么基于血清B水平降低、甲基丙二酸和/或同型半胱氨酸等生物标志物升高，要么基于肠外维生素B治疗后临床症状的改善。我们讨论了维生素B缺乏患者可能出现的临床体征和症状，以及诊断和治疗过程中的各种陷阱。
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