CAJ | 학술논문

目的分析Alport综合征患者的临床听力学特点,探讨Alport综合征的基因型与听力表型的关系.方法总结北京大学第一医院2008年8月至2013年8月期间确诊为Alport综合征的92例国人患者的临床资料,对主要临床听力学表现进行回顾性分析.采用检测皮肤成纤维细胞mRNA的方法或外周血DNA扩增直接测序的方法对其中17例患者进行Ⅳ型胶原α3或α5链基因的检测.结果 92例患者中X连锁显性遗传87例,常染色体隐性遗传5例.44例患者听力正常,其中14例未成年患者耳声发射(OAE)异常,包括幅值降低、部分未引出.48例(52.2％)患者纯音听阈异常,其中男35例、女13例,均为感音神经性聋;听力曲线:槽型21例、下降型13例、平坦型10例、高频陡降型3例以及上升型1例.X连锁显性遗传Alpo.综合征患者中听力下降者共43例(49.4％),其中男性听力下降发生率为55.0％(33/60例),女性为37.0％(10/27例),均表现为轻、中度听力下降,没有重度和极重度者.17例行基因检测患者共检出16种突变,其中听力下降为中度及以上的8例患者均为严重突变.结论中国人Alport综合征的听力下降以轻、中度为主,听力曲线以槽型为主.OAE在听力损害早期诊断中有重要意义.听力下降表型与基因型可能具有一定的相关性.
목적 분석Alport종합정환자적림상은역학특점,탐토Alport종합정적기인형여은력표형적관계.방법 총결북경대학제일의원2008년8월지2013년8월기간학진위Alport종합정적92례국인환자적림상자료,대주요림상은역학표현진행회고성분석.채용검측피부성섬유세포mRNA적방법혹외주혈DNA확증직접측서적방법대기중17례환자진행Ⅳ형효원α3혹α5련기인적검측.결과 92례환자중X련쇄현성유전87례,상염색체은성유전5례.44례환자은력정상,기중14례미성년환자이성발사(OAE)이상,포괄폭치강저、부분미인출.48례(52.2％)환자순음은역이상,기중남35례、녀13례,균위감음신경성롱;은력곡선:조형21례、하강형13례、평탄형10례、고빈두강형3례이급상승형1례.X련쇄현성유전Alpo.종합정환자중은력하강자공43례(49.4％),기중남성은력하강발생솔위55.0％(33/60례),녀성위37.0％(10/27례),균표현위경、중도은력하강,몰유중도화겁중도자.17례행기인검측환자공검출16충돌변,기중은력하강위중도급이상적8례환자균위엄중돌변.결론 중국인Alport종합정적은력하강이경、중도위주,은력곡선이조형위주.OAE재은력손해조기진단중유중요의의.은력하강표형여기인형가능구유일정적상관성.
Objective To analyze the clinical audiological characteristics in Chinese Alport syndrome,and investigate the relationship between the genotypes of Alport syndrome and hearing phenotype.Methods The clinical hearing data of 92 cases diagnosed as Alport syndrome from 2008 August to 2013 August were reviewed and analyzed.All coding exons of COL4A3 and COL4A5 genes were PCR-amplified and sequenced from genomic DNA,or mRNA of COL4A5 gene was RT-PCR-amplified and sequenced from skin fibroblast in 17 cases.Results Eighty-seven out of 92 cases were found with X-linked dominant inheritance (XLAS); 5 cases with autosomal recessive (ARAS) ; 44 cases had normal hearing,but 14young cases had abnormal OAE; 48 cases (52.2％,35 male,13 female) had sensorineural hearing loss.A total of 44 cases with XLAS had hearing loss (49.4％),wherein the incidence of hearing impairment was 55.0％ in male XLAS,and 37.0％ in female XLAS.Mild and moderate hearing loss were found in XLAS.Audiometric curves including groove type (21 cases),descending type (13 cases),flat type (10 cases),high frequency drop type (3 cases) and ascending type (1 case) were found in AS.Sixteen mutations of COL4A3,COL4A5 gene were found in 17 cases with Alport syndrome,including severe mutation in 8 cases with moderate hearing impairment.Conclusions Mild and moderate hearing impairment,and groove type of audiometric curve are mainly found in Chinese Alport syndrome,which is different from Alport syndrome in western countries.OAE in the early diagnosis of hearing loss is important.Hearing phenotype is related certainly with genotype.