摘要
目的通过报道1例合并单肾缺如的Ⅳ型Waardenburg综合征病例,对Waardenburg综合征相关的研究进展进行简单的阐述,探讨Waardenburg综合征的可能病因,及Ⅳ型WS与肾畸形之间的关系。方法收集病例临床资料,查阅国内外文献。结果Waardenburg综合征的病因不明确,与基因突变相关,可能的致病基因有PAX3,SNAI2,MITF,SOX10,EDNRB,EDN3,后四个与Ⅳ型waardenburg综合征相关。结论Ⅳ型Waardenburg综合征合并孤立肾是一种罕见的表型,可进一步完善基因检测,明确致病基因,丰富WS疾病基因谱。
Objective To report a case of type Ⅳ Waardenburg syndrome(WS)with absence of single kidney,to review the research progress of WS,and to explore the possible etiology of WS and the relationship between type Ⅳ WS and renal malformation.Methods The clinical data of the cases were collected and literatures were reviewed.Results The etiology of WS was not clear and related to gene mutation.The possible pathogenic genes included PAX3,SNAI2,MITF,SOX10,EDNRB,and EDN3,and the last four were related to type Ⅳ WS.Conclusion Type Ⅳ WS with isolated kidney is a rare phenotype,which can further improve genetic testing,identify pathogenic genes and enrich the gene spectrum of WS.
作者
鄢敏
张搏
于新平
周舟
周敬淳
柯朝阳
刘明
YAN Min;ZHANG Bo;YU Xin-ping;ZHOU Zhou;ZHOU Jing-chun;KE Zhao-yang;LIU Ming(Department of Otolaryngoloy,the Second Clinical Medical College of Jinan University(Shenzhen People's Hospital),Shenzhen 518020,Guangdong Province,China;Department of Emergency,Longhua Branch of Shenzhen People's Hospital,Shenzhen 518109,Guangdong Province,China)
出处
《罕少疾病杂志》
2021年第4期7-9,共3页
Journal of Rare and Uncommon Diseases
