中文摘要：

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。

英文摘要：

Objective The acronym,CHARGE,represents a set of clinical presentations,including:C-coloboma,H-heart disease,A-atresia choanae,R-retarded growth and retarded development and/or central nervous system anomalies,G-genital hypoplasia,and E-ear anomalies and/or deafness.CHARGE syndrome is a rare,usually sporadic autosomaldominant hereditary disease,2/3of which caused by CHD7gene mutation.For CHARGE patients with profoundsensorineural hearing loss(SNHL),discrepancy of outcome after cochlear implantation(CI)exists in literatures.Materialsand Methods Three patients with profound SNHL diagnosed with CHARGE syndrome were hospitalized and receivedCI,with their CHD7genes sequenced.They were followed up for3year after operation,and hearing responseand language development were monitored.Results All three patients received CI,and CHD7gene mutations werefound in two patients.Surgical procedures were rather difficult in cases with severe malformation.After three years of follow-up with hearing and language rehabilitation,one patient showed hearing response,but no language development;one patient showed neither hearing response,nor language development;while the3rd patient showed both hearing responseand good language development.Conclusions For CHARGE patients with profound SNHL,CI may improvetheir auditory response and language skills,but surgical procedures are difficult,depending on the degree of malformation,with outcomes not always optimistic.