- 期刊
粒線體基因突變引起聽力障礙：病例報告
Sensorineural Hearing Loss Caused by Mitochondrial Mutation: A Case Report
摘要
Sensorineural hearing loss is a common symptom in mitochondrial DNA mutations, a maternally inherited problem. In the patients of sensorineural hearing loss, mitochondrial m. 3243A＞G and m. 1555A＞G are the common sites of mutation. Mitochondrial m. 1555A＞G mutation is associated with aminoglycoside antibiotic-induced hearing loss which is usually bilateral, symmetric, high frequency involved, and progressive sensorineural hearing impairment. The hearing loss could be observed in patients used the amino-glycoside antibiotics within 3 months. In our case report, the patient has the problem of hearing impairment and history of drug allergy since childhood. Tracing back her family history, we found some similar hearing problems in her relatives. With the genetic analysis m. 1555A＞G mitochondrial mutation was found in the patient. Therefore, in patients with sensorineural hearing loss m. 1555A＞G mitochondrial mutation should be considered as a possible cause and genetic analysis is a useful technique in clinical evaluation and management.
並列摘要
Sensorineural hearing loss is a common symptom in mitochondrial DNA mutations, a maternally inherited problem. In the patients of sensorineural hearing loss, mitochondrial m. 3243A＞G and m. 1555A＞G are the common sites of mutation. Mitochondrial m. 1555A＞G mutation is associated with aminoglycoside antibiotic-induced hearing loss which is usually bilateral, symmetric, high frequency involved, and progressive sensorineural hearing impairment. The hearing loss could be observed in patients used the amino-glycoside antibiotics within 3 months. In our case report, the patient has the problem of hearing impairment and history of drug allergy since childhood. Tracing back her family history, we found some similar hearing problems in her relatives. With the genetic analysis m. 1555A＞G mitochondrial mutation was found in the patient. Therefore, in patients with sensorineural hearing loss m. 1555A＞G mitochondrial mutation should be considered as a possible cause and genetic analysis is a useful technique in clinical evaluation and management.
延伸閱讀
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