McCune-Albright综合征1例报道并文献回顾  

One case report of McCune-Albright syndrome and literature review

作　　者：余培 王金堂[2] YU Pei;WANG Jintang(Graduate School,Hubei University of Medicine,Shiyan 442000,China;Department of Pediatrics,Shiyan People's Hospital,Shiyan,Hubei 442000,China)

机构地区：[1]湖北医药学院研究生院,湖北十堰442000 [2]十堰市人民医院儿科学,湖北十堰442000

出　　处：《中国医学工程》2024年第11期95-98,共4页China Medical Engineering

摘　　要：目的探讨McCune-Albright综合征(MAS)典型临床表现及其诊断依据。方法回顾性分析1例基因检测为阴性McCune-Albright综合征患者的典型临床表现,并复习相关文献。结果患儿男,8岁1个月,存在典型的骨纤维异常增生和咖啡色皮肤斑点,基因检测结果为阴性,根据临床症状诊断为McCune-Albright综合征。结论McCune-Albright综合征的患者通常基因检测结果阳性率较低,当患者出现典型的骨纤维异常增生、咖啡色皮肤斑点和性早熟三联征中的两种时,应高度警惕出现此类疾病的可能性,并早期对症治疗。【Objective】To investigate the typical clinical manifestations and diagnostic basis of McCune-Albright syndrome(MAS).【Methods】The typical clinical manifestations of a patient with negative McCune-Albright syndrome were analyzed retrospectively,and the related literature was reviewed.【Results】The patient was a male,8 years and 1 month old,with typical osteofibrous dysplasia and brown skin spots.The genetic test results were negative,and the patient was diagnosed as McCune-Albright syndrome according to the clinical symptoms.【Conclusion】Patients with McCune-Albright syndrome usually have a low positive rate of genetic test results.When patients develop two of the typical triad of osteofibroplasia,coffee skin spots and precocious puberty,the possibility of the occurrence of such diseases should be highly vigilant and early symptomatic treatment should be given.

关 键 词：MCCUNE-ALBRIGHT综合征 多发性骨纤维发育不良 基因突变 临床表现 

分 类 号：R725.9[医药卫生—儿科]