McCune-Albright综合征的致病机制及诊治研究进展  

Research progress on the pathogenic mechanisms,diagnosis and treatment of McCune-Albright syndrome

作　　者：母丹 刘洪倩 Mu Dan;Liu Hongqian(Department of Obstetrics and Gynecology,West China Second University Hospital,Sichuan Uniersity/Department of Medical Genetics/Prenatal Diagnostic Center,West China Second University Hospital,Sichuan University/Key Laboratory of Birth Defects and Related Diseases of Women and Children,Ministry of Education,Sichuan University,Chengdu 610041,China)

机构地区：[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

出　　处：《中华预防医学杂志》2024年第2期183-190,共8页Chinese Journal of Preventive Medicine

摘　　要：McCune-Albright综合征是一种由于合子后GNAS基因突变导致的罕见嵌合体性疾病,属于鸟核苷酸结合蛋白病,影响范围广泛,以骨纤维发育不良、咖啡牛奶斑及性早熟为特征,并伴有其他可变的临床表现。目前针对McCune-Albright综合征,分子诊断存在困难,临床上缺乏有效的治疗方法来阻止或逆转病程及转归。本文分析归纳了McCune-Albright综合征的临床表现、诊断、致病分子机制、治疗现状以及相关的生育指导,以期为McCune-Albright综合征的进一步研究和治疗提供借鉴。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.

关 键 词：MCCUNE-ALBRIGHT综合征 诊断 治疗 分子机制 

分 类 号：R725[医药卫生—儿科]