New progress in the diagnosis and treatment of thiamine responsive megaloblastic anemia syndrome / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics
;
(24): 793-795, 2022.
Article
in Chinese
| WPRIM
| ID: wpr-930520
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Diagnostic study
Language:
Chinese
Journal:
Chinese Journal of Applied Clinical Pediatrics
Year:
2022
Type:
Article
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