新生儿Wagner综合征1例  

A case of neonatal Wagner syndrome

作　　者：付向男 李桂芳 刘瑞可 FU Xiangnan;LI Guifang;LIU Ruike(Department of Neonatology,Cangzhou People’s Hospital,Hebei Province,Cangzhou 061000,China)

机构地区：[1]河北省沧州市人民医院新生儿科,河北沧州061000

出　　处：《妇儿健康导刊》2023年第6期60-61,64,F0003,共4页JOURNAL OF WOMEN AND CHILDREN'S HEALTH GUIDE

摘　　要：Wagner综合征是一种常染色体显性遗传病,VCAN基因为致病基因,该基因编码的VCAN是一种细胞外基质蛋白聚糖,构成玻璃体凝胶细胞外基质的主要成分,在玻璃体的完整结构中发挥作用。临床表现常为轻度或偶尔中度至重度近视、早期白内障、与进行性视网膜萎缩相关的夜盲症、疾病晚期视网膜牵引和视网膜脱离,以及视力下降、视神经倒置、葡萄膜炎等,严重可致盲,目前多为对症治疗,儿童罕见报道。本文报道1例新生儿期确诊的Wagner综合征,全外显子基因测序证实患儿VCNA基因变异(c.7309G>A),父母该基因均正常,为新发变异。分析其临床特点并对相关文献进行复习总结,以提高儿科医生对该疾病的认识,减少漏诊和误诊。Wagner syndrome is an autosomal dominant disease with the causative gene VCAN,which encodes an extracellular matrix proteoglycan that forms a major component of the extracellular matrix of the vitreous gel and plays a role in the integrity of the vitreous structure.Clinical manifestations are often mild or occasionally moderate to severe myopia,early cataracts,night blindness associated with progressive retinal atrophy,retinal traction and retinal detachment in advanced stages of the disease,as well as loss of vision,optic nerve inversion,uveitis and can be severe enough to cause blindness,which are currently mostly treated symptomatically,with rare reports in children.This paper reported a case of Wagner syndrome diagnosed in the neonatal period,and whole-exon gene sequencing confirmed the VCNA gene variant(c.7309G>A),the parents were both normal for this gene,the child was neogenetic variation.The clinical characteristics were analyzed and the relevant literature was reviewed and summarized,so as to improve the understanding of the disease and reduce missed diagnosis and mi sdiagnosis.

关 键 词：Wagner综合征 VCAN基因 玻璃体视网膜病 青光眼 新生儿 

分 类 号：R722[医药卫生—儿科]