Smith-Magenis综合征诊断方法探讨  

Research on the Diagnosis of Smith-Magenis Syndrome

作　　者：陈丹纯 唐本玉[1] 潘思年[1] 朱顺叶[1] CHEN Dan-chun;TANG Ben-yu;PAN Si-nian;ZHU Shun-ye(Department of Pediatrics, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510630, China)

机构地区：[1]中山大学附属第三医院儿科,广东广州510630

出　　处：《中山大学学报（医学版）》2018年第3期477-481,共5页Journal of Sun Yat-Sen University:Medical Sciences

摘　　要：【目的】探讨Smith-Magenis综合征的诊断方法及患儿的临床特征,以期提高国内对该病的认识。【方法】本研究通过对患儿行外周血染色体微阵列分析、血尿常规、生长激素激发试验、胰岛素样生长因子-1、胰岛素样生长因子结合蛋白3、皮质醇(8a)、泌乳素、促肾上腺皮质激素、甲状腺功能、肝肾功能、血生化、空腹胰岛素及餐后2 h血糖、乙肝两对半等实验室检查,以及骨龄测定和垂体核磁共振等影像学检查来诊断Smith-Magenis综合征,并对该病患儿的病情进行评估及观察。【结果】该病例中患儿染色体微阵列分析示:chr17p11.2区域发生约3.6 Mb片段缺失,包含RAI1等重要功能基因,该基因与Smith-Magenis综合征相关。结合患儿临床表现,明确诊断患儿为Smith-Magenis综合征。【结论】基因检查是诊断Smith-Magenis综合征的重要标准。儿童特殊面容合并多系统障碍,早期进行基因检查有利于早期诊断,降低时间及经济成本。【Objective】We explore the diagnosis of Smith-Magenis syndrome and its clinical features of children,to raise the domestic awareness of this disease.【Methods】In this study,the child received peripheral blood chromosome microarray analysis,blood routine and urine routine,growth hormone provocation test,insulin-like growth factor I and insulin-like growth factor binding protein Ⅲ test,cortisol（8 a）test,prolactin test,adrenocorticotropic hormone test,thyroid function test,liver and kidney function test,blood biochemistry test,fasting insulin test,2-hour plasma glucose test,the antibodies and antigens test of hepatitis B.The bone age measurement and the pituitary gland MRI were also performed.We use the above figures to diagnose Smith-Magenis syndrome,assess and observe the condition of the child in Smith-Magenis syndrome.【Results】In this case,the chromosomal microarray analysis revealed a deletion of about 3.6 Mb fragments in the chr17 p11.2 region,including main functional gene RAI1,which was associated with Smith-Magenis syndrome.According to the clinical manifestations and the result of chromosome microarray analysis,the diagnosis of children with Smith-Magenis syndrome was made clear.【Conclusion】Genetic tests are the standard for diagnosing Smith-Magenis syndrome. When children have special facial features combined with multiple system disorders,early genetic examination is conducive to early diagnosis,and can reduce the time and economic cost.

关 键 词：Smith-Magenis综合征 矮小 痛觉不敏感 精神运动发育迟滞 睡眠障碍 

分 类 号：R72[医药卫生—儿科]