糖尿病酮症酸中毒致硫胺素反应性巨幼细胞性贫血。
Diabetic acido-ketosis revealing thiamine-responsive megaloblastic anemia.
机构信息
Service de médecine infantile A, hôpital d'Enfants de Tunis, Jebari, 1007 Bab Saadoun, Tunisia.
出版信息
Ann Endocrinol (Paris). 2009 Dec;70(6):477-9. doi: 10.1016/j.ando.2009.09.001. Epub 2009 Nov 18.
Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus and progressive sensorineural deafness. We report the cases of two infants, aged 4 and 5 months, hospitalized for diabetic ketoacidosis requiring insulin therapy. Laboratory tests revealed megaloblasic anemia, thrombocytopenia and normal thiamine level. Neurosensorial investigations showed bilateral deafness and ophthalmic involvement. Treatment with oral thiamine normalized hematological disorders and controlled diabetes; however, thiamine therapy had no impact on neurosensorial disorders.
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病，其特征为巨幼细胞性贫血、糖尿病和进行性感觉神经性耳聋。我们报告了两例年龄分别为 4 个月和 5 个月的婴儿，因糖尿病酮症酸中毒需要胰岛素治疗而住院。实验室检查显示巨幼细胞性贫血、血小板减少和正常的硫胺素水平。神经感觉调查显示双侧耳聋和眼部受累。口服硫胺素治疗使血液学异常正常化并控制了糖尿病；然而，硫胺素治疗对神经感觉障碍没有影响。
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