Early thiamine therapy in Rogers syndrome: Systematic review of hematologic, auditory and glycemic outcomes

罗杰斯综合征早期硫胺素治疗:血液学、听觉和血糖结局的系统评价

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Abstract

Rogers syndrome (thiamine-responsive megaloblastic anemia, TRMA) is a rare autosomal recessive disorder caused by mutations in SLC19A2 and is characterized by megaloblastic anemia, diabetes and sensorineural deafness. Therefore, it is of interest to review the effect of early thiamine therapy on recovery of hematologic function, preservation of hearing and glycemic control. Available data shows that anemia reversed consistently with early thiamine, glycemic control improved when treatment was initiated before β-cell exhaustion and hearing loss almost never improved once it had occurred. Thus, early administration of thiamine is critical to hematologic recovery and to partial metabolic benefit, but is not uniformly preventive of deafness.

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