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.
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