儿童CHARGE综合征的临床特征分析  

Clinical features of CHARGE syndrome in children

作　　者：孔佳怡 李曼红 王雨生 张自峰 Kong Jiayi;Li Manhong;Wang Yusheng;Zhang Zifeng(Department of Ophthalmology,Xijing Hospital,Air Force Military Medical University,Eye Institute of Chinese PLA,Xi'an 710032,China)

机构地区：[1]解放军空军军医大学西京医院眼科、全军眼科研究所,西安710032

出　　处：《中华眼科杂志》2025年第3期182-188,共7页Chinese Journal of Ophthalmology

基　　金：陕西省重点研发计划(2024SF-GJHX-38)。

摘　　要：目的分析CHARGE[眼组织缺损(C)、心脏病(H)、后鼻孔闭锁(A)、发育迟缓和中枢神经系统异常(R)、生殖器发育缺陷(G)、耳畸形和耳聋(E)为主要症状的先天性常染色体显性遗传性发育异常]综合征患儿眼部及全身临床特征。方法回顾性病例系列研究。将2018年1月至2022年12月于空军军医大学西京医院眼科就诊的CHARGE综合征患儿8例(16只眼)的临床资料纳入本研究。8例患儿均行眼部及全身系统性检查;4例行基因检测。详细记录患儿出生基本情况、病史、家族史, 归纳总结患儿眼部及全身的临床表现, 并分析基因测序结果。结果 8例患儿中, 男性5例, 女性3例;首次就诊眼科年龄为2个月至15岁;5例首诊于眼科, 3例由耳鼻喉科转诊;8例患儿均存在特征性、不对称性、先天性脉络膜缺损等眼部异常, 其中伴听力障碍占比为7/8、耳畸形占比为8/8、发育迟缓占比为7/8、心脏畸形占比为5/8、智力障碍占比为3/8、后鼻孔狭窄占比为1/8、肾畸形占比为1/8、骨骼畸形占比为1/8。行基因检测的4例患儿均发现染色质域解旋酶DNA结合蛋白(CHD)7基因突变, 均为致病性新发突变。结论 CHARGE综合征儿童临床表现多样, 与CHD7基因突变密切相关。眼部主要表现为组织缺损, 同时常合并耳、心脏、神经系统、内分泌系统等多器官系统严重畸形。Objective:To analyze the ocular and systemic clinical features of children with CHARGE syndrome,which is a congenital autosomal dominant developmental disorder mainly characterized by coloboma(C),heart disease(H),atresia choanae(A),retarded growth and central nervous system anomalies(R),genital hypoplasia(G),and ear anomalies and deafness(E).Methods:This was a retrospective caseseries study.Eight children(16 eyes)with CHARGE syndrome who visited the Department of Ophthalmology,Xijing Hospital,Air Force Medical University from January 2018 to December 2022 were included in this study.All 8 children underwent ocular and systemic examinations;4 children underwent genetic testing.The basic birth conditions,medical history,and family history of the children were recorded in detail.The ocular and systemic clinical manifestations of the children were summarized,and the results of gene sequencing were analyzed.Results:Among the 8 children,5 were male and 3 were female.The age at the first ophthalmological visit ranged from 2 months to 15 years.Five children were first diagnosed in the ophthalmology department,and 3 were referred from the otolaryngology department.All 8 children had ocular abnormalities such as characteristic,asymmetric,and congenital choroidal coloboma.Among them,the proportion of children with hearing impairment was 7/8,ear malformation was 8/8,developmental delay was 7/8,heart malformation was 5/8,intellectual disability was 3/8,choanal stenosis was 1/8,renal malformation was 1/8,and skeletal malformation was 1/8.All 4 children who underwent genetic testing were found to have mutations in the chromodomain helicase DNA-binding protein 7(CHD7)gene,and all were pathogenic de novo mutations.Conclusions:The clinical manifestations of children with CHARGE syndrome are diverse and highly associated with CHD7 gene mutations.The main ocular manifestation is tissue coloboma,and it is often accompanied by severe malformations in multiple organ systems such as the ears,heart,nervous system,and endocrine system.

关 键 词：CHARGE综合征 脉络膜 眼缺损 DNA解旋酶类 DNA结合蛋白质类 突变 

分 类 号：R72[医药卫生—儿科]