遗传性综合征型聋患者人工耳蜗植入的围手术期处理及疗效影响因素分析  

Perioperative management of cochlear implantation and analysis on the influencing factors of efficacy in patients diagnosed as hereditary syndromic hearing loss

作　　者：袁永一 李晓鸽 高搏 毕青玲[2] 杨仕明 韩东一 戴朴 Yuan Yongyi;Li Xiaoge;Gao Bo;Bi Qingling;Yang Shiming;Han Dongyi;Dai Pu(National Clinical Research Center for Otolaryngologic Diseases,College of Otolaryngology Head and Neck Surgery,the Sixth Medical Center of PLA General Hospital,Beijing 100048,China;Departments of Otolaryngology Head and Neck Surgery,China-Japan Friendship Hospital,Beijing 100029,China)

机构地区：[1]国家耳鼻咽喉疾病临床医学研究中心 中国人民解放军总医院第六医学中心耳鼻咽喉头颈外科医学部, 北京 [2]中日友好医院耳鼻咽喉头颈外科, 北京

出　　处：《中华耳鼻咽喉头颈外科杂志》2025年第2期153-165,共13页Chinese Journal of Otorhinolaryngology Head and Neck Surgery

基　　金：国家自然科学基金(82271177,82171185);北京市自然科学基金(7242137);国家重点研发计划(2022YFC2703602)。

摘　　要：目的分析遗传性综合征型聋患者人工耳蜗植入的围手术期注意事项、术后效果及其影响因素。方法本研究为回顾性队列研究,研究对象为2010-2021年间在中国人民解放军总医院耳鼻咽喉头颈外科就诊的综合征型聋患者47例,其中男26例、女21例,年龄0.9~25岁。所有患者均接受单侧或双侧人工耳蜗植入。通过表型评估结合基因检测进行综合征型聋的诊断;从术前影像、术中所见及并发症处理等方面总结综合征型聋患者人工耳蜗植入的风险及注意事项;用助听听阈、听觉行为分级(Categories of Auditory Performance,CAP)量表和言语可懂度分级(Speech Intelligibility Rating,SIR)量表评价术后效果。应用SPSS 26.0软件通过单因素线性回归和多重线性回归模型评估各因素对综合征型聋患者人工耳蜗植入术后效果的影响。结果47例综合征型聋患者中CHARGE综合征20例,Waardenburg综合征9例,耳聋甲发育不全综合征4例,Pendred综合征3例,多痣Noonan综合征2例,鳃耳(肾)综合征2例,Bart-Pumphrey综合征、Perrault综合征、Kabuki综合征、额骨骺发育不良2型、Guion-Almeida型下颌面骨发育不全、Coffin-Siris综合征、10号染色体12.7 Mb区带缺失各1例。围手术期特殊处理包括:对累及心脏和/或软骨发育的患者,术前行心功能和/或喉软骨发育评估以减低麻醉风险;对伴有轻度智力障碍和/或听神经病表型的患者,术前与患者家属沟通人工耳蜗植入效果的局限性以帮助其建立合理预期;针对综合征型聋患者进行人工耳蜗植入术较常遇到的内耳畸形、面神经畸形、脑脊液漏等情况,在术前选择合适的电极,术中进行面神经监测、妥善修补脑脊液漏;对累及凝血功能的多痣Noonan综合征患者,延长术后加压包扎时间以减少血肿发生。人工耳蜗每日佩戴时长、是否有耳蜗畸形、是否有发育迟缓是术后CAP分级的独立影响因素;人工耳蜗每日佩ObjectiveTo explore the perioperative precautions,rehabilitation effect,and affecting factors in cochlear implantation(CI)among patients with hereditary syndromic hearing loss.MethodsThis was a retrospective cohort study.47 patients diagnosed as hereditary syndromic deafness were treated in the Department of Otolaryngology-Head and Neck Surgery of the Chinese PLA General Hospital from 2010 to 2021,including 26 males and 21 females,aged 0.9-25 years.All patients received unilateral or bilateral CI.Clinical manifestation combined with genetic testing was used to diagnose syndromic hearing loss.The risks and precautions of CI in these patients were summarized from preoperative imaging,intraoperative observations,and postoperative complications.Single factor linear regression and multiple linear regression models in SPSS 26.0 software were used to evaluate the effects of various factors on auditory and speech rehabilitation after CI for syndromic hearing loss.The postoperative outcomes were analyzed through aided hearing thresholds,categories of auditory performance(CAP)scale,and speech intelligibility rate(SIR)scale.ResultsThirteen kinds of syndromes,totally 47 cases,including CHARGE(20 cases),Waardenburg(9 cases),Autosomal dominant deafness-onychodystrophy(DDOD,4 cases),Pendred(3 cases),Noonan Syndrome with Multiple Lentigines(NSML,2 cases),Branchio-Oto-Renal(BOR,2 cases),Bart-Pumphery(1 case),Perrault(1 case),Kabuki(1 case),Frontometaphyseal dysplasia type 2(FMD 2,1 case),Mandibulofacial dysostosis Guion-Almeida type(MFDGA,1 case),Coffin-Siris(1 case),and 10q26.12-q26.3 del(1 case),were enrolled.The perioperative special management included the following measures.For patients with cardiac and/or cartilage development issues,preoperative assessments of cardiac function and/or laryngeal cartilage development were performed to minimize anesthetic risks.For patients with mild intellectual disability and/or an auditory neuropathy phenotype,preoperative communication with the patients′families was conducted to explain

关 键 词：听觉丧失 感音神经性 综合征 遗传性聋 耳蜗植入术 围手术期 预后 

分 类 号：R764.9[医药卫生—耳鼻咽喉科]