Mu D, Liu H Q
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.
Zhonghua Yu Fang Yi Xue Za Zhi. 2024 Feb 6;58(2):183-190. doi: 10.3760/cma.j.cn112150-20231008-00242.
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.
McCune - Albright综合征是一种罕见的嵌合性疾病，由合子后GNAS基因突变引起。它属于鸟嘌呤核苷酸结合蛋白疾病组，影响广泛的个体。其特征为纤维性发育异常、咖啡斑皮肤斑以及性早熟，并伴有其他各种不同的临床表现。目前，McCune - Albright综合征的分子诊断存在困难，且缺乏有效的临床治疗方法来阻止或逆转疾病的进程及消退。本文总结了McCune - Albright综合征的临床表现、诊断、致病分子机制、治疗及相关生育指南，以期对McCune - Albright综合征进行进一步的研究和治疗。
