硫胺素反应性巨幼细胞贫血综合征
Thiamine responsive megaloblastic anemia syndrome.
作者信息
Ganesh Ramaswamy, Ezhilarasi S, Vasanthi Thiruvengadam, Gowrishankar Kalpana, Rajajee Sarala
机构信息
Kanchi Kamakoti CHILDS Trust Hospital, Nageswara road, Nungambakkam, Chennai, Tamilnadu, India.
出版信息
Indian J Pediatr. 2009 Mar;76(3):313-4. doi: 10.1007/s12098-009-0058-5. Epub 2009 Apr 6.
Thiamine responsive megaloblastic anemia syndrome (TRMA) is a clinical triad characterized by thiamine-responsive anemia, diabetes mellitus and sensorineural deafness. We report a 4-year-old girl with TRMA whose anemia improved following administration of thiamine and this case report sensitizes the early diagnosis and treatment with thiamine in children presenting with anemia, diabetes and deafness.
硫胺素反应性巨幼细胞贫血综合征（TRMA）是一种临床三联征，其特征为硫胺素反应性贫血、糖尿病和感音神经性耳聋。我们报告了一名4岁患有TRMA的女孩，其贫血在给予硫胺素后有所改善，本病例报告提高了对出现贫血、糖尿病和耳聋的儿童进行硫胺素早期诊断和治疗的认识。
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