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

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.