中华耳科学杂志2017，Vol.15Issue(2)：180-184,5.DOI:10.3969/j.issn.1672-2922.2017.02.008
CHARGE综合征人工耳蜗植入
Cochlear Implantation in CHARGE Syndrome
摘要
Abstract
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 anoma-lies, G-genital hypoplasia, and E-ear anomalies and/or deafness. CHARGE syndrome is a rare, usually sporadic autoso-mal dominant hereditary disease, 2/3 of which caused by CHD7 gene mutation. For CHARGE patients with profound sensorineural hearing loss (SNHL), discrepancy of outcome after cochlear implantation (CI) exists in literatures. Materi-als and Methods Three patients with profound SNHL diagnosed with CHARGE syndrome were hospitalized and re-ceived CI, with their CHD7 genes sequenced. They were followed up for 3 year after operation, and hearing response and language development were monitored. Results All three patients received CI, and CHD7 gene mutations were found 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 the 3rd patient showed both hearing re-sponse and good language development. Conclusions For CHARGE patients with profound SNHL, CI may improve their auditory response and language skills, but surgical procedures are difficult, depending on the degree of malforma-tion, with outcomes not always optimistic.关键词
CHARGE综合征/诊断标准/CHD7基因突变/人工耳蜗植入Key words
CHARGE syndrome/diagnostic criteria/CHD7 gene mutation/cochlear implantation分类
医药卫生引用本文复制引用
李万鑫,王宁,黄莎莎,李北成,戴朴..CHARGE综合征人工耳蜗植入[J].中华耳科学杂志,2017,15(2):180-184,5.基金项目
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). Funding: National Scientific Fundation Grant (81230020, 81371096), Ministry of Science and Technology Grant (2012BAI09B02),National Basic Research Program of China (2014CB541706,2014CB541701),China Postdoctoral Science Funda-tion Grant (2014M552649). （81230020,81371096）
