New progress in the diagnosis and treatment of thiamine responsive megaloblastic anemia syndrome / 中华实用儿科临床杂志

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.