CHARGE综合征人工耳蜗植入

发布时间：2018-07-10 18:41

本文选题：CHARGE综合征 + 诊断标准　；参考：《中华耳科学杂志》2017年02期

【摘要】：目的 CHARGE综合征表现为一系列临床症状,包括:眼组织病变(C)、心脏疾病(H)、后鼻孔闭锁(A)、生长与发育延迟和/或中枢神经系统异常(R)、生殖系统发育不良(G),以及耳部异常和/或耳聋(E)。该病是一种罕见的、通常散发的、常染色体显性遗传的疾病,三分之二的病例由于CHD7基因突变引起。对于出现极重度感音神经性耳聋(SNHL)的该病患者,人工耳蜗植入(CI)对于听力和语言的疗效在文献报道中存在较大差异。本文总结了三例CHARGE综合征患者CI的疗效,并对相关文献进行回顾。方法三例诊断为CHARGE综合征的极重度SNHL患者,在我科接受CI,在常规术前检查外,对其CHD7基因进行测序。术后随访三年,对其听觉反应和言语发育进行监测。结果三例患者均成功完成CI,两例患者查出CHD7基因突变。耳部严重畸形的患者,手术难度较大。术后随访3年,一例患者有听力改善,但无言语发育;一例患者既无听觉反应,亦无言语发育;另一例患者听力明显改善,言语发育良好。结论患有极重度SNHL的CHARGE综合征患者,CI可能改善听觉反应和言语发育,但其转归并不总是理想的。对于耳部畸形的患者,手术难度较大。
[Abstract]:Objective to present CHARGE syndrome with a series of clinical symptoms. These include: ocular histopathopathy (C), heart disease (H), posterior nostril atresia (A),) growth and development delay and / or central nervous system abnormality (R), reproductive dysplasia (G), and deafness and / or deafness (E). The disease is a rare, usually sporadic, autosomal dominant disease, causing CHD7 mutations in 2/3 cases. For the patients with severe sensorineural hearing loss (SNHL), the effects of cochlear implantation (CI) on hearing and speech are different in the literature. The curative effect of CI in three patients with CHARGE syndrome was summarized and the related literatures were reviewed. Methods three patients with extremely severe SNHL diagnosed as CHARGE syndrome received CI.The CHD7 gene was sequenced after routine preoperative examination. All patients were followed up for 3 years to monitor their auditory response and speech development. Results CII was successfully completed in all three patients and CHD 7 gene mutation was detected in two patients. In patients with severe deformity of the ear, the operation is difficult. After 3 years of follow-up, one patient had improved hearing, but no speech development; one patient had neither auditory response nor speech development; the other patient had improved hearing and developed speech well. Conclusion CI may improve auditory response and speech development in patients with severe SNHL, but the outcome is not always ideal. For patients with deformity of the ear, the operation is difficult.
【作者单位】：中国人民解放军总医院外科临床部耳鼻咽喉头颈外科;苏州大学附属第一医院耳鼻咽喉头颈外科;中国人民解放军总医院外科临床部小儿外科;
【基金】：国家自然科学基金(81230020,81371096) 科技部基金(2012BAI09B02) 973项目(2014CB541706,2014CB541701) 中国博士后科学基金(2014M552649)~~
【分类号】：R764.9

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