病例报道

McCune-Albright综合征2例报道并文献复习*

  • 王静娜 ,
  • 王杰英 ,
  • 李荣敏 ,
  • 常洁 ,
  • 雷淑琴 ,
  • 桑艳梅
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  • 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

收稿日期: 2022-05-06

  网络出版日期: 2023-01-09

基金资助

*保定市科学技术局科研课题(1951ZF076)

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

  • WANG Jingna ,
  • WANG Jieying ,
  • LI Rongmin ,
  • CHANG Jie ,
  • LEI Shuqin ,
  • SANG Yanmei
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  • 1. Baoding Children's Hospital/Baoding Key Laboratory of Clinical Research on Children's Respiratory and Digestive Diseases, Baoding 071000,China;
    2. 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

Received date: 2022-05-06

  Online published: 2023-01-09

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。

本文引用格式

王静娜 , 王杰英 , 李荣敏 , 常洁 , 雷淑琴 , 桑艳梅 . McCune-Albright综合征2例报道并文献复习*[J]. 包头医学院学报, 2022 , 38(10) : 79 -85 . DOI: 10.16833/j.cnki.jbmc.2022.10.016

Abstract

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.

参考文献

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