New progress in diagnosis and treatment of CHARGE syndrome
10.3760/cma.j.issn.2095-428X.2019.14.019
- VernacularTitle: CHARGE综合征诊疗新进展
- Author:
Beibei ZHANG
1
;
Chunxiu GONG
1
,
2
Author Information
1. Department of Endocrinology, Genetics and Metabolism, Beijing Children′s Hospital, Capital Medical University, National Center for Children′s Health, Beijing 100045, China
2. Beijing Key Laboratory for Genetics of Birth Defects, Beijing 100045, China
- Publication Type:Review
- Keywords:
CHARGE syndrome;
Autosomal dominant disease;
Organ malformation;
Diagnosis;
Treatment
- From:
Chinese Journal of Applied Clinical Pediatrics
2019;34(14):1116-1120
- CountryChina
- Language:Chinese
-
Abstract:
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.
