妇儿健康导刊2026，Vol.5Issue(7)：55-59,5.DOI:10.3969/j.issn.2097-115X.2026.07.012
1例硫胺素响应性巨幼细胞贫血综合征合并脑梗死患儿的诊治并文献复习
Diagnosis and treatment of a child with thiamine-responsive megaloblastic anemia syndrome complicated with cerebral infarction and literature review
摘要
Abstract
Thiamine-responsive megaloblastic anemia syndrome(TRMA)is a rare autosomal recessive inherited disease.The mutation of SLC19A2 gene leads to the impairment of thiamine transport function,and its clinical manifestation is the triad of megaloblastic anemia,diabetes and sensorineural deafness.This article reports a 5-month-old child who was admitted to the hospital due to anemia and fever,and was diagnosed with TRMA through genetic testing.The child showed multiple system involvement,including anemia,diabetes ketoacidosis,deafness and large area of left intracranial infarction.After thiamine supplementation,insulin control of blood glucose and symptomatic support treatment,anemia and limb function were significantly improved,blood glucose was stable,and the quality of life was greatly improved.This article aims to assist clinicians in early identification of TRMA,promote standardized diagnosis and treatment,and improve the prognosis and quality of life of the children.关键词
硫胺素响应性巨幼细胞贫血综合征/SLC19A2基因/糖尿病酮症酸中毒/感音神经性耳聋/脑梗死Key words
Thiamine-responsive megaloblastic anemia syndrome/SLC19A2 gene/Diabetic ketoacidosis/Sensorineural deafness/Cerebral infarction分类
医药卫生引用本文复制引用
郭文娴,邵鹏,郭淑娟,刘晓英..1例硫胺素响应性巨幼细胞贫血综合征合并脑梗死患儿的诊治并文献复习[J].妇儿健康导刊,2026,5(7):55-59,5.基金项目
山东省聊城市哲学社会科学规划"健康聊城理论与实践研究"专项课题(ZXKT2025293). （ZXKT2025293）
