CHARGE综合征诊疗新进展  

New progress in diagnosis and treatment of CHARGE syndrome

作　　者：张贝贝 巩纯秀 Zhang Beibei;Gmg Chunxiu(Department of Endocrinology, Genetics and Metabolism, Beijing Children Hospital, Capital Medical University, NationalCenter for Children's Health, Beijing 100045 China;Beijing Key Laboratory for Genetics of Birth Defects, Beijing100045,China)

机构地区：[1]首都医科大学附属北京儿童医院内分泌与遗传代谢科,国家儿童医学中心,100045 [2]北京市出生缺陷遗传学重点实验室,100045

出　　处：《中华实用儿科临床杂志》2019年第14期1116-1120,共5页Chinese Journal of Applied Clinical Pediatrics

基　　金：北京市科技计划(Z151100003915103).

摘　　要：CHARGE综合征是一种罕见的常染色体显性遗传疾病,该疾病会导致多种器官结构和功能异常,临床表现多样性,可呈家族遗传性,但大多数为散发性,同时由于临床表现与其他一些综合征组分重叠较大,鉴别诊断需要丰富的临床体征识别经验。而随着致病性基因CHD7检测的发现,大大提高了诊断的精准度。及时诊断和治疗CHARGE综合征有利于减少死亡和判断预后。现通过回顾文献,总结CHARGE综合征的诊疗进展,辅助临床对于疾病的诊断和治疗。CHARGE syndrome is a rare autosomal dominant genetic disease, which involves the structure and function of multiple organs.The clinical manifestations are complex and diverse, it can be hereditary, but most cases was sporadic.While, the representation of disease is too much overlap with other diseases, it can be difficult to make a diagnosis only by clinical data.With the discovery of the pathogenic gene-CHD7, it can be further enhanced the knowledge and diagnosis of disease.Prompt diagnosis and treatment is not only beneficial to reduce mortality, but also can help to the prognosis of the patients.Through reviewing the literature, the progress of diagnosis and treatment of CHARGE syndrome were summarized in order to diagnose and treat the disease.

关 键 词：CHARGE综合征 常染色体显性遗传疾病 器官畸形 诊断 治疗 

分 类 号：R725.9[医药卫生—儿科]