基于文献回顾的193例McCune-Albright综合征患者的临床特征分析  

Analysis of clinical features of 193 Chinese patients with McCune-Albright syndrome through a literature review

作　　者：冯鑫 袁珂 卢惠飞 屠海锋[3] 朱建芳[1,2] 方燕兰 严庆丰[1,4,5] 王春林 Feng Xin;Yuan Ke;Lu Huifei;Tu Haifeng;Zhu Jiangfang;Fang Yanlan;Yan Qingfeng;Wang Chunlin(Department of Pediatrics,the First Affiliated Hospital of Zhejiang University School of Medicine,Hangzhou,Zhejiang 310003,China;National Center for Clinical Research in Child Health and Disease,Hangzhou,Zhejiang 310003,China Lu Huifei;Library,the First Affiliated Hospital of Zhejiang University School of Medicine,Hangzhou,Zhejiang 310003,China;College of Life Sciences,Zhejiang University,Hangzhou 310058,China;Key Laboratory for Cell and Gene Engineering of Zhejiang Province,Hangzhou,Zhejiang 310058,China Wang Chunlin)

机构地区：[1]浙江大学医学院附属第一医院儿科,杭州310003 [2]国家儿童健康与疾病临床医学研究中心,杭州310003 [3]浙江大学医学院附属第一医院图书馆,杭州310003 [4]浙江大学生命科学学院,杭州310058 [5]浙江省细胞与基因工程重点实验室,杭州310058

出　　处：《中华医学遗传学杂志》2024年第7期776-782,共7页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(82270837)。

摘　　要：目的回顾性分析我国193例McCune-Albright综合征(MAS)患者的临床特征。方法以"McCune-Albright综合征""Albright综合征""骨纤维发育不良"为关键词检索1990年1月到2022年11月期间万方、中国知网、维普、PubMed和Embase数据库收录的MAS相关文献,共获取病例193例,回顾性分析其临床资料。采用t检验、Mann-Whitney U检验、χ2检验进行组间比较。结果在193例MAS患者中,男性42例,女性151例。女性患者中位初诊年龄早于男性。典型三联征的患者占46.1%,其中位初诊年龄和诊断年龄均早于非典型组。男性MAS初诊原因以骨纤维发育不良(FD)为主,女性以外周性性早熟(PPP)为主。FD患者约占MAS患者的84.5%,中位发病年龄为6.1岁,其中90%的患者发病年龄≤16岁。内分泌功能亢进者约占MAS患者的79.3%,女性比例高于男性(P<0.05)。垂体受累者占21.8%,其中生长激素(GH)升高者较正常者合并颅面FD和颅神经压迫比例明显偏高(P<0.05)。有牛奶咖啡斑(CALMs)者约占MAS患者的86.5%,其中28.3%(28/99)CALMs的分布与FD位于不同侧。结论MAS具有多系统受累的特点,女性患者占多数,且发病年龄早于男性,症状以非典型为主。男性MAS常见的初诊原因为FD,女性为PPP。对于合并GH升高的MAS患者应警惕颅神经压迫的发生。Objective To retrospectively analyze the clinical characteristics of 193 Chinese patients with McCune-Albright syndrome(MAS).Methods By using keywords"McCune-Albright syndrome","Albright syndrome",or"fibrous dysplasia"as the search terms,193 cases of MAS reported in China from January 1990 to November 2022 from the Wanfang data,CNKI,VIP,PubMed,and Embase databases were obtained,and their clinical data was retrospectively analyzed.Intergroup comparisons were carried out by using t test,Mann-Whitney U test,andχ2 test.Results The 193 MAS patients had included 42 males and 151 females,with the median first-visit age of females being younger than males.The typical triad group had accounted for 46.1%of patients,and the middle first-visit and diagnosis age was younger than the atypical group.The primary reason for first-visit in males of MAS was fibrous dysplasia(FD),whilst that in females of MAS was peripheral precocious puberty(PPP).FD has occurred in 84.5%of the patients,with an average age of onset age being 6.1 years old,and 90%was≤16 years of age.Endocrine hyperfunction was found in 79.3%of the patients,with a higher proportion in females compared with males(P<0.05).Pituitary involvement was seen in 21.8%of the patients,and the incidence of craniofacial FD and cranial nerve compression was significantly higher in those with elevated growth hormone(GH)than without(P<0.05).Café-au-Lait Spots were noted in 86.5%of the patients,and 28.3%(28/99)had located on the different side of FD.Conclusion Most MAS patients had atypical manifestations and multi-systemic involvement.It is more common and occurs earlier in females.The most common reasons for initial diagnosis in male and female patients were FD and PPP,respectively.Patients with elevated GH should be examined for cranial nerve compression.

关 键 词：MCCUNE-ALBRIGHT综合征 骨纤维发育不良 内分泌功能亢进 牛奶咖啡斑 罕见病 

分 类 号：R725.9[医药卫生—儿科]