CAJ | 학술논문

目的：通过对线粒体DNA 1555/1494突变耳聋文献病例进行分析，总结患者听力学特点，探讨影响耳聋程度的相关因素。方法以“线粒体DNA 1555/1494突变”和“感音神经性聋”为主题词，检索中文CNKI、万方、维普数据库，英文PubMed数据库，进行文献回顾。对线粒体DNA 1555/1494突变耳聋患者病例进行基本信息和听力学相关信息统计，按照性别、基因突变信息、是否应用氨基糖甙类抗生素、用药年龄、用药情况、发病间隔、发病年龄、单倍型、突变异质率以及耳聋程度等相关项目编辑excel表格，按需要导入SPSS 19.0软件分析。结果共收集到符合要求的文献39篇，资料完整的线粒体DNA A1555G和C1494T突变携带者324例。线粒体DNA A1555G突变共285例，华裔254例，其他亚裔18例，非亚裔13例，线粒体DNA C1494T突变39例均为华裔。明确使用氨基糖甙类抗生素致聋230例，无氨基糖甙类抗生素使用发生耳聋92例。2例应用氨基糖甙类抗生素药物1年听力正常。统计分析发现用药患者的耳聋程度较未用药患者重（X2=25.414，P<0.05）。无论是否用药，发病年龄与耳聋程度有显著的负相关，而用药后发病间隔与耳聋程度无相关（R=0.054,P>0.05）。另外，线粒体DNA 1555/1494突变异质率与耳聋程度显著正相关（R=0.823，P<0.05）。结论多种因素影响mtDNA A1555G/C1494T携带者的临床表现。对于线粒体DNA A1555G/C1494T相关耳聋进行早期耳聋基因诊断有重要的临床意义。对突变携带者，严禁使用氨基糖甙类抗生素。
목적：통과대선립체DNA 1555/1494돌변이롱문헌병례진행분석，총결환자은역학특점，탐토영향이롱정도적상관인소。방법이“선립체DNA 1555/1494돌변”화“감음신경성롱”위주제사，검색중문CNKI、만방、유보수거고，영문PubMed수거고，진행문헌회고。대선립체DNA 1555/1494돌변이롱환자병례진행기본신식화은역학상관신식통계，안조성별、기인돌변신식、시부응용안기당대류항생소、용약년령、용약정황、발병간격、발병년령、단배형、돌변이질솔이급이롱정도등상관항목편집excel표격，안수요도입SPSS 19.0연건분석。결과공수집도부합요구적문헌39편，자료완정적선립체DNA A1555G화C1494T돌변휴대자324례。선립체DNA A1555G돌변공285례，화예254례，기타아예18례，비아예13례，선립체DNA C1494T돌변39례균위화예。명학사용안기당대류항생소치롱230례，무안기당대류항생소사용발생이롱92례。2례응용안기당대류항생소약물1년은력정상。통계분석발현용약환자적이롱정도교미용약환자중（X2=25.414，P<0.05）。무론시부용약，발병년령여이롱정도유현저적부상관，이용약후발병간격여이롱정도무상관（R=0.054,P>0.05）。령외，선립체DNA 1555/1494돌변이질솔여이롱정도현저정상관（R=0.823，P<0.05）。결론다충인소영향mtDNA A1555G/C1494T휴대자적림상표현。대우선립체DNA A1555G/C1494T상관이롱진행조기이롱기인진단유중요적림상의의。대돌변휴대자，엄금사용안기당대류항생소。
Objective Clinical characteristics of deaf patients caused by mitochondrial DNA (mtDNA) 1555 /1494 mutations are not clearly defined. Here we review the relative literature to summarize the audiological characteristics of these patients and to discuss the factors affecting hearing loss degree.Methods We have selected “mtDNA 1555/1494 mutation” and “sensorineural hearing loss” as keywords to search for the data in the databases of CNKI , WanFang, VIP, and PubMed. From the resources, we collected the data, including the basic information, audiological records, genetic information, and medication. The literature review was conducted with the software of EXCEL and SPSS 19.0.Results Among the collected 324 cases from 39 publications, 285 cases carrying mtDNA 1555 mutation include 254 Chinese,18 other Asians and 13 non-Asians, and all the 39 cases carrying mtDNA C1494T mutation are Chinese. 230 cases had the specific history of using aminoglycoside antibiotic and 92 cases did not. However, two of them can hear normally one year later. A statistical analysis suggested that the degree of hearing loss in patients with treatment was significantly severer than patients without(X2=25.414,P<0.05). Whether being treated or not, the patients’ ages of onset had a significant negative correlation with the degree of hearing loss(P<0.05). But there were no correlations between the onset of intervals and the degree of hearing loss(R=0.054,P>0.05). In addition, the heterogeneous mutation rate and the degree of deafness had a significant positive correlation (R=0.823,P<0.05). Conclusion A variety of factors influence the clinical features of mtDNA A1555G/C1494T carriers. Genetic diagnosis plays an important role in valuating mtDNA A1555G/C1494T mutation related deafness. For mtDNA A1555G/C1494T mutation carriers, the use of aminoglycoside antibiotics should be banned in their lifetime.