先天性双侧输精管缺如相关致病基因及临床诊疗进展  

Progress in related pathogenic genes and clinical diagnosis and treatment of congenital bilateral absence of vas deferens

作　　者：郭文强 郭世峰 杨康 陈厚仰[1] Guo Wenqiang;Guo Shifeng;Yang Kang;Chen Houyang(Reproductive Medical Center of Jiangxi Maternal and Child Health Hospital,Nanchang 330000,China)

机构地区：[1]江西省妇幼保健院辅助生殖中心,南昌330000

出　　处：《中华生殖与避孕杂志》2024年第10期1069-1074,共6页Chinese Journal of Reproduction and Contraception

基　　金：江西省杰出青年项目(20224ACB216008);国家自然科学基金面上项目(81871207)。

摘　　要：先天性双侧输精管缺如(congenital bilateral absence of vas deferens,CBAVD)可导致梗阻性无精子症,是男性不育的常见病因之一。CBAVD致病有关的基因种类繁多,其致病机制各有特点,但又有一定的联系;同时鉴于CBAVD在不育症的比例,合适的临床诊治和遗传咨询显得尤为重要。本文就CBAVD的致病机制和临床诊疗进行综述,以期待为中国CBAVD患者的诊治和遗传咨询提供参考。Congenital bilateral absence of vas deferens(CBAVD)can lead to obstructive azoospermia,which is one of the common causes of male infertility.The genes involved in the pathogenesis of CBAVD are diverse,and their pathogenic mechanisms are distinctive but related.Meanwhile,given the proportion of CBAVD in infertility,appropriate clinical diagnosis and treatment and genetic counseling are particularly important.In this article,we review the pathogenic mechanism and clinical diagnosis and treatment of CBAVD,to provide reference for clinical diagnosis and treatment and genetic counseling for Chinese patients with CBAVD.

关 键 词：先天性双侧输精管缺如 囊性纤维化跨膜转导调节因子 粘连型G蛋白偶联受体G2 溶质载体家族9成员3 泛酸激酶2 上皮细胞钠离子通道β亚单位 碳酸酐酶12 

分 类 号：R698.2[医药卫生—泌尿科学]