硫胺素反应性巨幼细胞贫血综合征诊疗进展  

New progress in the diagnosis and treatment of thiamine responsive megaloblastic anemia syndrome

作　　者：张书乐 马雪 李桂梅 Zhang Shule;Ma Xue;Li Guimei(Department of Pediatric Endocrinology,Shandong Provincial Hospital,Cheeloo College of Medicine,Shandong University,Jinan 250012,China;Department of Pediatric Endocrinology,Shandong Provincial Hospital Affiliated to Shandong First Medical University,Jinan 250012,China)

机构地区：[1]山东大学附属省立医院小儿内分泌综合科,济南250012 [2]山东第一医科大学附属省立医院小儿内分泌综合科,济南250012

出　　处：《中华实用儿科临床杂志》2022年第10期793-795,共3页Chinese Journal of Applied Clinical Pediatrics

基　　金：山东省重点研发计划(2017GSF18118)。

摘　　要：硫胺素反应性巨幼细胞贫血综合征是由编码高亲和力硫胺素转运体-1的SLC19A2基因突变导致的一种罕见的常染色体隐性遗传病。累及的器官系统广泛, 临床表现多样, 典型的三联征为巨幼细胞性贫血、非自身免疫性糖尿病和感音神经性耳聋。确诊依靠对致病基因SLC19A2的检测。一线治疗方案为硫胺素替代治疗, 对血糖的管理应综合进行, 助听器和人工耳蜗可改善患者听力。Thiamine responsive megaloblastic anemia syndrome is a rare autosomal recessive disease caused by mutations of the SLC19A2 gene that encodes the high-affinity thiamine transporter-1.Thiamine responsive megaloblastic anemia syndrome involves extensive organs and systems with various clinical manifestations.The typical triad is megaloblastic anemia,non-autoimmune diabetes,and sensorineural deafness.The diagnosis of thiamine responsive megaloblastic anemia syndrome depends on the detection of the pathogenic gene SLC19A2.Thiamine replacement therapy is the first-line treatment.Blood glucose of patients with thiamine responsive megaloblastic anemia syndrome should be comprehensively managed,and hearing aids and cochlear implants can be used to improve the hearing.

关 键 词：巨幼细胞性贫血 维生素B1 综合征 常染色体隐性遗传病 诊断 治疗 

分 类 号：R556[医药卫生—血液循环系统疾病]