伴神经性耳聋的Werner综合征1例国内首报  

Werner Syndrome with Sensorineural Hearing Loss:the First Case Report in China

作　　者：任军[1,2] 刘晓坤[2] 李新生[2] 王晓慧[2] 王官清[2] 曾抗[1] 

机构地区：[1]南方医科大学南方医院皮肤科,广东广州510515 [2]厦门大学附属中山医院皮肤科,福建厦门361004

出　　处：《中国皮肤性病学杂志》2012年第1期1-5,共5页The Chinese Journal of Dermatovenereology

摘　　要：目的探讨Werner综合征的临床表现及诊断,提高对Werner综合征的认识。方法报告1例伴神经性耳聋的Werner综合征,并进行相关的文献复习,详细分析该病的组织起源、临床表现、鉴别诊断、治疗及预后等,完善患者各系统筛查和实验室检查。结果各系统筛查结果提示患者多组织发育不良或加速退行性变。其临床表现复杂,伴有神经性耳聋等,但无糖尿病及白内障,临床诊断为伴神经性耳聋Werner综合征。结论伴神经性耳聋的Werner综合征较为罕见,目前国内未见报道,该病极易误诊,应对Werner综合征相关基因进一步筛查研究。Objective To identify the clinical spectrum and the clinical diagnostic criteria of weiner syndrome. Methods We here reported a novel werner syndrome case. Based on the clinical features of the case and overall review on the related literatures, we aimed to identify the clinical characteristics including involved tissue or- igin, clinical manifestation, differentiation diagnosis, treatment and prognosis of Werner syndrome. Multiple systems including skin, skeleton, skeletal muscle and adipose tissue were estimated by laboratory investigations. Results The case manifested as the prominent progeroid disorders, multiple system （skin, skeleton, skeletal muscle and fat） degeneration. The case＇ s presentation could be classified as a novel Werner syndrome which manifested with sensorineural hearing loss without diabetes mellitus and cataract. Conclusion Werner syndrome is a rare disease which manifested as a wide clinical spectrum. This is the first case of Werner syndrome with sensorineural hearing loss in Chinese. Further study on the associated genes screening will helo to elucidate the molecular mechanism.

关 键 词：WERNER综合征 WRN基因 感音性神经性耳聋 

分 类 号：R764.431[医药卫生—耳鼻咽喉科] R596.1[医药卫生—临床医学]