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目的评估线粒体基因组(mitochondrial DNA,mtDNA)A1555G突变致非综合征性聋患者的临床表型及听力学特点。方法对经聚合酶链反应-限制性内切酶酶解法证实携带线粒体基因组A1555G突变的96例母系成员,进行病史调查和纯音听阈测试,并对性别、应用氨基糖甙类抗生素史、发病年龄等与耳聋程度的关系进行统计学分析。结果96例研究对象中耳聋患者与正常个体的性别分布均衡,34例有明确的氨基糖甙类抗生素用药史,67例耳聋患者中33例由氨基糖甙类药物耳毒性引起,26例用药后一周内发生耳聋,7例迟发。10个家系的平均耳聋外显率为68.8%。耳聋患者的临床表型多样,耳聋程度与应用氨基糖甙类药物时的年龄以及发病年龄相关,年龄越小,发生耳聋的程度越重;研究对象中年龄大于60岁的9例均为耳聋患者,但耳聋程度相对较轻。结论mtDNA A1555G突变本身不足以引起临床症状,氨基糖甙类药物和核基因在mtDNA A1555G突变的发病机制上起重要作用。携带mtDNA A1555G突变的成员年龄越小,越易出现听力下降,而且耳聋的程度越重。本组资料对耳毒性药物的风险提供了有价值的信息,从而提高氨基糖甙类药物使用的安全性,最终降低耳聋的发生率。
Objective To evaluate the clinical phenotype and audiology of patients with non-syndromic deafness caused by mitochondrial DNA (mtDNA) A1555G mutation. Methods A total of 96 maternal members carrying the mitochondrial genome A1555G mutation were confirmed by polymerase chain reaction-restriction endonuclease digestion, and their history and pure tone threshold were tested. The gender, history of aminoglycoside antibiotics, age of onset and so on And the relationship between deafness for statistical analysis. Results 96 cases of subjects with deafness and normal individuals with a balanced gender distribution, 34 patients with a clear history of aminoglycoside antibiotics, 67 cases of deafness in 33 patients caused by aminoglycoside ototoxicity, 26 patients after treatment Deafness occurred in one week and delayed in 7 cases. The average deafness penetrance of 10 pedigrees was 68.8%. Deafness in patients with various clinical phenotypes, deafness and the use of aminoglycosides age and age of onset related to the younger, the degree of deafness occurred more serious; study of the age of more than 60 years of age were 9 patients with deafness , But the degree of deafness is relatively light. Conclusion The mtDNA A1555G mutation alone is not enough to cause clinical symptoms. Aminoglycosides and nuclear genes play an important role in the pathogenesis of mtDNA A1555G mutation. The younger the member carrying the mtDNA A1555G mutation, the more susceptible to hearing loss, and the greater the degree of deafness. The information in this group provides valuable information on the risks of ototoxic drugs, thereby improving the safety of aminoglycosides and ultimately reducing the incidence of deafness.