Internal Medicine, University of Kentucky, Lexington, Kentucky, USA
Internal Medicine, University of Kentucky, Lexington, Kentucky, USA.
BMJ Case Rep. 2024 Oct 1;17(10):e261435. doi: 10.1136/bcr-2024-261435.
Thiamine-responsive megaloblastic anaemia (TRMA) is a rare autosomal recessive disorder characterised by the clinical triad of megaloblastic anaemia, sensorineural hearing loss and diabetes mellitus (DM) in young patients. We present a case of a young man with type 1 DM who presented with pancytopenia of unclear aetiology, initially attributed to a COVID-19 infection. After obtaining a bone marrow biopsy and pursuing genetic testing, two pathogenic variants of the SLC19A2 gene consistent with TRMA were discovered in this patient. Treatment with 100 mg of thiamine oral supplementation daily led to the complete resolution of his pancytopenia. It is important to consider a genetic cause of pancytopenia in a young person. Early recognition and diagnosis of TRMA can be life-altering given early treatment can reduce insulin requirements and resolve anaemia.
硫胺素反应性巨幼细胞性贫血（TRMA）是一种罕见的常染色体隐性遗传疾病，其特征是年轻患者出现巨幼细胞性贫血、感觉神经性耳聋和糖尿病（DM）三联征。我们报告了一例 1 型糖尿病年轻男性患者，其表现为不明病因的全血细胞减少，最初归因于 COVID-19 感染。在获得骨髓活检并进行基因检测后，发现该患者的 SLC19A2 基因有两个致病性变异，符合 TRMA。每日口服 100mg 硫胺素补充治疗后，其全血细胞减少完全缓解。在年轻人中，应考虑全血细胞减少的遗传原因。早期识别和诊断 TRMA 可以改变患者的生活，因为早期治疗可以降低胰岛素需求并解决贫血。
