Mitochondrial 12S Ribosomal RNA A1555G Mutation Associated with Cardiomyopathy and Hearing Loss following High-Dose Chemotherapy and Repeated Aminoglycoside Exposure
Mitochondrial 12S Ribosomal RNA A1555G Mutation Associated with Cardiomyopathy and Hearing Loss following High-Dose Chemotherapy and Repeated Aminoglycoside Exposure
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DOI：
10.1016/j.jpeds.2013.10.024
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发表时间：
2014-02-01
影响因子：
5.1
通讯作者：
Hasle, Henrik
中科院分区：
文献类型：
--
作者：
Skou, Anne-Sofie;Tranebjrg, Lisbeth;Hasle, Henrik
一名19个月大的女孩，12S核糖体RNA基因线粒体A1555G突变，并患有急性髓系白血病，在接受异基因干细胞移植前出现扩张型心肌病和双侧感音神经性听力损失。她曾在发热性中性粒细胞减少症发作期间接受庆大霉素治疗。建议对经常使用氨基糖苷类药物治疗的患者进行A1555G突变检测。
A 19-month-old girl with the A1555G mitochondrial mutation in the 12S ribosomal RNA gene and acute myelogenous leukemia developed dilated cardiomyopathy and bilateral sensorineural hearing loss before undergoing allogeneic stem cell transplantation. She had received gentamicin during episodes of febrile neutropenia. Testing for the A1555G mutation is recommended in patients frequently treated with aminoglycosides.