New progress in the diagnosis and treatment of thiamine responsive megaloblastic anemia syndrome
10.3760/cma.j.cn101070-20200826-01409
- VernacularTitle:硫胺素反应性巨幼细胞贫血综合征诊疗进展
- Author:
Shule ZHANG
1
;
Xue MA
;
Guimei LI
Author Information
1. 山东大学附属省立医院小儿内分泌综合科，济南 250012
- Keywords:
Megaloblastic anemia;
Vitamin B1;
Syndrome;
Autosomal recessive disease;
Diagnosis;
Treatment
- From:
Chinese Journal of Applied Clinical Pediatrics
2022;37(10):793-795
- CountryChina
- Language:Chinese
-
Abstract:
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.
