Bazarbachi A, Muakkit S, Ayas M, Taher A, Salem Z, Solh H, Haidar J H
Department of Internal Medicine, American University of Beirut, Lebanon.
Br J Haematol. 1998 Sep;102(4):1098-100. doi: 10.1046/j.1365-2141.1998.00861.x.
The triad of thiamine-responsive anaemia, diabetes mellitus and deafness has been reported in 15 patients with macrocytic anaemia, sometimes associated with moderate thrombocytopenia. The bone marrow aspirate usually shows megaloblastic changes and ringed sideroblasts. However, tri-lineage myelodysplasia has never been reported. We describe two patients who presented with diabetes, deafness and thiamine-responsive pancytopenia. Bone marrow aspirate and biopsy were typical of tri-lineage myelodysplasia. These findings suggest that thiamine may have a role in the regulation of haemopoiesis at the stem cell level. We propose the term 'thiamine-responsive myelodysplasia' rather than that of thiamine-responsive anaemia.
在15例大细胞性贫血患者中报告了硫胺素反应性贫血、糖尿病和耳聋三联征，有时伴有中度血小板减少症。骨髓穿刺液通常显示巨幼细胞改变和环形铁粒幼细胞。然而，三系骨髓发育异常从未有过报道。我们描述了两名患有糖尿病、耳聋和硫胺素反应性全血细胞减少症的患者。骨髓穿刺和活检具有典型的三系骨髓发育异常特征。这些发现表明硫胺素可能在干细胞水平的造血调节中起作用。我们建议使用“硫胺素反应性骨髓发育异常”这一术语，而不是硫胺素反应性贫血。
