摘要
家族性原发性遗尿症(FPNE)临床常见,有家族聚集性,存在明显的遗传因素。已经发现4、8、12、13、22染色体与遗尿的遗传有关,PRDM13和EDNRB两个基因与遗尿的发病机制相关,但目前仍不十分清楚相关基因的具体作用功能。在难治性遗尿患者中,FPNE占比偏高。FPNE与其他原发性遗尿症类型相比,诊断并不困难,只要有血缘关系的家族成员有遗尿患者,就可诊断为FPNE。因治疗困难,遗尿更容易延续到成年,FPNE多属于顽固性遗尿。因此,对FPNE患儿应早期诊断和积极干预。现就FPNE的流行病学、发病机制、诊断和治疗进展进行综述,为提高FPNE的临床诊疗水平提供参考。
Familial primary nocturnal enuresis(FPNE)is common in clinical practice and has shown an obvious familial aggregation that is associated with genetic factors.It has been found that chromosomes 4,8,12,13 and 22 are related to the inheritance of enuresis.PRDM13 and EDNRB genes are related to the pathogenesis of enuresis,but the specific functions remain unclear.FPNE accounts for a high proportion in patients with refractory enuresis.Compared with other types of primary enuresis,FPNE is not difficult to be diagnosed,as long as the related family members have enuresis,it can be diagnosed as FPNE.Due to treatment difficulties,FPNE easily lasts into adulthood,serving as a type of intractable enuresis.Therefore,early diagnosis and active intervention should be made for children with FPNE.In this review,the epidemiology,pathogenesis,diagnosis and treatment of FPNE were summarized,aiming to provide references for improving the clinical diagnosis and treatment of FPNE.
作者
刘亚凯
胡绘杰
宋翠萍
文建国
Liu Yakai;Hu Hujie;Song Cuiping;Wen Jianguo(Department of Pediatric Surgery,the First Affiliated Hospital of Xinxiang Medical University,Weihui 453100,China;Department of Humanities Nursing,Sanquan College of Xinxiang Medical University,Xinxiang 453000,China;International Joint Laboratory of Urodynamics and Pelvic Floor in Children,the First Afiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)
出处
《中华实用儿科临床杂志》
CAS
CSCD
北大核心
2023年第8期636-640,共5页
Chinese Journal of Applied Clinical Pediatrics
基金
国家自然科学基金(81670689,U1904208)
河南省医学科技攻关计划省部共建项目(SBGJ2018059)。
关键词
遗尿症
家族史
基因
Enuresis
Family history
Gene
