McCune-Albright综合征2例报道并文献复习  

McCune-Albright syndrome:two cases report and review of the literature

作　　者：王静娜 王杰英[1] 李荣敏[1] 常洁[1] 雷淑琴[1] 桑艳梅[2] WANG Jingna;WANG Jieying;LI Rongmin;CHANG Jie;LEI Shuqin;SANG Yanmei(Baoding Children’s Hospital/Baoding Key Laboratory of Clinical Research on Children’s Respiratory and Digestive Diseases,Baoding 071000,China;National Children’s Medical Center(Beijing)Beijing Children’s Hospital Affiliated to Capital Medical University/Key discipline of Pediatrics Center for Endocrinology,genetics and metabolism)

机构地区：[1]保定市儿童医院/保定市儿童呼吸消化疾病临床研究重点实验室,河北保定071000 [2]国家儿童医学中心(北京)首都医科大学附属北京儿童医院/儿科学重点学科内分泌遗传代谢中心

出　　处：《包头医学院学报》2022年第10期79-85,共7页Journal of Baotou Medical College

基　　金：保定市科学技术局科研课题(1951ZF076)。

摘　　要：目的:探讨McCune-Albright综合征患儿的临床特点及基因突变,并复习相关文献。方法:分析本院收治的2例McCune-Albright综合征患儿的临床资料,并收集其新鲜组织、外周血进行基因检测。结果:患儿主要表现为外周性性早熟(乳房发育、月经初潮、卵巢囊肿)、皮肤牛奶咖啡斑(皮肤不对称性咖啡色色素沉着,边缘不规则)、骨纤维结构不良(桡骨和/或胫腓骨远端骨质改变),基因分子遗传学分析结果显示均存在GNAS基因突变[c.602G>A杂合突变(p.R201H)、c.46C>T(p.R16C)]。结论:McCune-Albright综合征临床罕见,容易漏诊及误诊,基因检测分析有助于McCune-Albright综合征患儿的临床诊断。Objective:To investigate the clinical features and gene mutation in children with McCune-Albright syndrome,and review the related literature.Methods:The clinical data of two children with McCune-Albright syndrome admitted to our hospital were summarized,and their fresh tissues and peripheral blood were collected for gene detection.Results:The main symptoms of the children were peripheral precocious puberty(breast development,menarche,ovarian cysts),café-au-lait spots on the skin(skin asymmetry brown pigmentation,irregular edge),and poor bone fibrous structure(bone changes of distal radius and/or tibiofibula).The results of gene molecular genetic analysis showed that there were GNAS gene mutations[c.602G>A heterozygous mutation(p.R201H)、c.46C>T(p.R16C)].Conclusion:McCune-Albright syndrome is rare and easy to be missed and misdiagnosed.Gene detection is helpful for the clinical diagnosis of children with MAS.

关 键 词：MCCUNE-ALBRIGHT综合征 罕见病 GNAS基因 

分 类 号：R725[医药卫生—儿科]