努南综合征的听力学特点及人工耳蜗干预效果的研究进展  

Audiological Characteristics of Noonan Syndrome and Advances in Research on Effects of Cochlear Implant Intervention

作　　者：陈雨欣 刘玉和 CHEN Yuxin;LIU Yuhe(Department of Otorhinolaryngology Head and Neck surgery,Beijing Friendship Hospital,Capital Medical University,Beijing 100050,China)

机构地区：[1]首都医科大学附属北京友谊医院耳鼻咽喉头颈外科,北京100050

出　　处：《中华耳科学杂志》2025年第2期283-288,共6页Chinese Journal of Otology

基　　金：北京市医院管理中心“登峰”计划专项项目(DFL20220102)。

摘　　要：努南综合征是一种多发性先天畸形异常综合征,患病率为0.4‰~1‰,多为常染色体显性遗传,相关的致病基因至少有16个。由PTPN11基因变异致病的患者常伴有听力损失,听力损失的性质可以是感音神经性或传导性,程度从轻度至极重度,可分为先天性或后天性,部分听力损失呈现出进展性。由于部分努南综合征患者智力发育异常、部分患者存在凝血功能异常,人工耳蜗植入适应证及围手术期处理值得关注。2009年,文献首次报道人工耳蜗植入改善努南综合征患者的听力,之后报道的部分病例记录了围手术期及术中多个方面的突发情况及注意事项。我们旨在回顾既往文献,总结伴有听力损失的努南综合征患者的听力学特点,以及行人工耳蜗植入干预的注意事项及干预效果,以期为人工耳蜗改善努南综合征患者听力的应用和后续研究提供一定参考。Noonan syndrome is a complex congenital malformation syndrome with a prevalence of about 0.4‰~1‰,mostly autosomal dominant involving at least 16 associated causative genes.Patients with PTPN11 gene variants often have hearing loss,which can be sensorineural or conductive,ranging from mild to profound,congenital or acquired,and progressive in some patients.Due to the fact that some patients with Noonan syndrome have abnormal mental development and others can have coagulation abnormalities,indications for cochlear implantation and perioperative management can be tricky.2009 saw the first report of cochlear implantation to improve hearing in patients with Noonan syndrome,although some of the cases reported since then have documented perioperative and intraoperative emergencies and precautions on multiple fronts.The purpose of this article is to review the existing literature and summarize the audiological characteristics in Noonan syndrome patients with hearing loss,as well as precautions and effects of cochlear implantation,with the aim of providing a basis for application of cochlear implantation to improve the hearing in these patients and for future research.

关 键 词：努南综合征 人工耳蜗植入 听力 

分 类 号：R596.1[医药卫生—内科学] R764[医药卫生—临床医学]