Borgna-Pignatti Caterina, Azzalli Milena, Pedretti Stefania
Department of Clinical and Experimental Medicine-Pediatrics, University of Ferrara, Ferrara, Italy.
J Pediatr. 2009 Aug;155(2):295-7. doi: 10.1016/j.jpeds.2009.01.062.
Thiamine-responsive megaloblastic anemia is a rare autosomal recessive disorder whose main symptoms are anemia, diabetes mellitus, and sensorineural deafness. We describe a 20-year follow-up of 2 previously reported patients and of 1 patient diagnosed before onset of symptoms and treated with thiamine since the first sign of disease.
硫胺素反应性巨幼细胞贫血是一种罕见的常染色体隐性疾病，其主要症状为贫血、糖尿病和感音神经性耳聋。我们描述了对2例先前报告的患者以及1例在症状出现前确诊并自疾病首个迹象起即用硫胺素治疗的患者进行的20年随访情况。
