Research progress on the pathogenic mechanisms, diagnosis and treatment of McCune-Albright syndrome
10.3760/cma.j.cn112150-20231008-00242
- VernacularTitle:McCune-Albright 综合征的致病机制及诊治研究进展
- Author:
Dan MU
1
;
Hongqian LIU
Author Information
1. 四川大学华西第二医院妇产科 四川大学华西第二医院医学遗传科/产前诊断中心 四川大学华西第二医院妇产科出生缺陷与相关妇儿疾病教育部重点实验室，成都 610041
- Keywords:
McCune-Albright syndrome;
Diagnosis;
Therapy;
Pathogenic molecular mechanism
- From:
Chinese Journal of Preventive Medicine
2024;58(2):183-190
- CountryChina
- Language:Chinese
-
Abstract:
McCune-Albright syndrome is a rare chimeric disorder due to mutations in the postzygotic GNAS gene. It belongs to the group of guanine nucleotide-binding protein diseases, affecting a wide range of individuals. It is characterized by fibrous dysplasia, café-au-lait skin macules, and precocious puberty with other variable clinical manifestations. At present, there are difficulties in the molecular diagnosis of McCune-Albright syndrome, and there is a lack of effective clinical treatments to halt or reverse the course and regression of the disease. This article summarizes the clinical manifestations, diagnosis, pathogenic molecular mechanisms, treatment and relevant fertility guidelines of McCune-Albright syndrome, with a view to further research and therapy of McCune-Albright syndrome.
