伴有SLC19A2基因突变的婴儿期起病的硫胺素反应性巨幼细胞贫血综合征：一例报告
Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report.
作者信息
Katipoğlu Nagehan, Karapinar Tuba H, Demir Korean, Aydin Köker Sultan, Nalbantoğlu Özlem, Ay Yılmaz, Korkmaz Hüseyin A, Oymak Yeşim, Yıldız Melek, Tunç Selma, Hazan Filiz, Vergin Canan, Ozkan Behzat
机构信息
Department of Pediatrics, Dr. Behcet Uz Children's Hospital, Izmir, Turkey.
Department of Pediatric Hematology and Oncology, Dr. Behcet Uz Children's Hospital, Izmir, Turkey.
出版信息
Arch Argent Pediatr. 2017 Jun 1;115(3):e153-e156. doi: 10.5546/aap.2017.eng.e153.
BACKGROUND
Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound heterozygous mutations in the SLC19A2 gene.
CASE PRESENTATION
We report a girl which presented with sensorineural deafness treated with a hearing prosthesis, insulin requiring diabetes, macrocytic anemia, treated with thiamine (100 mg/day). Hemoglobin level improved to 12.1 g/dl after dose of thiamine therapy increased up to 200 mg/day.
CONCLUSION
Patients with TRMA must be evaluated for megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. They must be followed for response of hematologic and diabetic after thiamine therapy. It should be kept in mind that dose of thiamine therapy may be increased according to the clinical response. Genetic counseling should be given.
背景
硫胺素反应性巨幼细胞贫血综合征（TRMA），也称为罗杰斯综合征，其特征为巨幼细胞贫血、感音神经性听力损失和糖尿病。硫胺素向细胞内转运的紊乱是由SLC19A2基因的纯合或复合杂合突变引起的。
病例报告
我们报告一名女孩，她患有感音神经性耳聋，使用听力假体进行治疗，患有胰岛素依赖型糖尿病、大细胞贫血，接受硫胺素（100毫克/天）治疗。硫胺素治疗剂量增加至200毫克/天后，血红蛋白水平升至12.1克/分升。
结论
必须对TRMA患者进行巨幼细胞贫血、感音神经性听力损失和糖尿病的评估。必须对他们进行随访，观察硫胺素治疗后血液学和糖尿病方面的反应。应记住，可根据临床反应增加硫胺素治疗剂量。应提供遗传咨询。
Zotero 插件