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中华腔镜泌尿外科杂志(电子版)

中华腔镜泌尿外科杂志(电子版) ›› 2023, Vol. 17 ›› Issue (02) : 110 -113. doi: 10.3877/cma.j.issn.1674-3253.2023.02.003

临床研究

先天性输精管缺如合并肾脏畸形三例CFTR基因突变检测并文献复习
杨晓健1, 张炎2, 冯嘉荣2, 刘卓杰2, 张浩3,†()   
  1. 1. 523000　广东，东莞市妇幼保健院生殖中心男科
    2. 510630　广州，中山大学附属第三医院不育与性医学科
    3. 510630　广州，中山大学附属第三医院泌尿外科
  • 收稿日期:2022-04-27 出版日期:2023-04-01
  • 通信作者: 张浩
  • 基金资助:
    广东省基础与应用基础研究基金(2019A1515010975)

Detection of the CFTR mutation of congenital absence of the vas deferens combined with renal abnormality and literature review

Xiaojian Yang1, Yan Zhang2, Jiarong Feng2, Zhuojie Liu2, Hao Zhang3,†()   

  1. 1. Department of Andrology, Reproductive Center, Dongguan Maternal and Child Health Care Hospital, Guangdong 523000, China
    2. Department of Infertility and Sexual Medicine, the Third Affiliated Hospital of Sun Yat-sen University, Guangzhou 510630, China
    3. Department of Urology, the Third Affiliated Hospital of Sun Yat-sen University, Guangzhou 510630, China
  • Received:2022-04-27 Published:2023-04-01
  • Corresponding author: Hao Zhang
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杨晓健, 张炎, 冯嘉荣, 刘卓杰, 张浩. 先天性输精管缺如合并肾脏畸形三例CFTR基因突变检测并文献复习[J]. 中华腔镜泌尿外科杂志(电子版), 2023, 17(02): 110-113.

Xiaojian Yang, Yan Zhang, Jiarong Feng, Zhuojie Liu, Hao Zhang. Detection of the CFTR mutation of congenital absence of the vas deferens combined with renal abnormality and literature review[J]. Chinese Journal of Endourology(Electronic Edition), 2023, 17(02): 110-113.

目的

探讨先天性输精管缺如（CAVD）合并肾脏畸形（RA）患者是否需要检测CFTR基因突变。

方法

收集2013年4月至2015年2月中山大学附属第三医院3例先天性输精管缺如合并肾脏畸形患者的临床资料。对其进行详细的体格检查、超声和MRI检查，并对CFTR基因启动子和所有27个外显子区域进行测序。

结果

3例患者均证实了先天性输精管缺如合并肾脏畸形的诊断，在CFTR基因测序方面，3例患者均检测出启动子突变c.-966T>G，其中1例杂合子，2例纯合子。

结论

先天性输精管缺如合并肾脏畸形不能排除CFTR基因突变，CAVD-RA的遗传学病因仍需进一步探究，CFTR基因启动子、全外显子组测序有望发现CAVD-RA新的突变基因。

关键词: 先天性输精管缺如, 肾脏畸形, CFTR基因突变
Objective

To investigate whether patients of congenital absence of vas deferens (CAVD) combined with the renal abnormality need to detect CFTR gene mutation.

Methods

Three patients with CAVD and renal abnormality were recruited from April 2013 to February 2015 in the Third Affiliated Hospital of Sun Yat-sen University. Physical examination, ultrasonography and MRI were applied for the diagnosis. The promoter and all 27 exons of the CFTR gene were sequenced.

Results

All three patients were confirmed the diagnosis of CAVD combined with renal abnormality. Except for some polymorphisms, a promoter mutation c.-966T>G was found in all of them, one was heterozygote and two were homozygotes.

Conclusions

CAVD with renal abnormality (CAVD-RA) cannot exclude CFTR gene mutations. The genetic etiology with CAVD-RA, CFTR promotors and the whole exome sequencing also should be detected and explored.

Key words: Congenital absence of vas deferens, Renal abnormality, CFTR mutation
图1 三例先天性输精管缺如合并肾脏畸型患者的肾脏特征注：图中a表示患者1的盆腔上极融合马蹄形肾；b表示患者2的左肾缺失（sp表示脾）；c和d表示患者3的下极融合马蹄形肾（c表示冠状面，d表示横断面）
表1 三例先天性输精管缺如合并肾脏畸型患者生殖系统的特征
患者编号 输精管 附睾 精囊
左侧 右侧 左附睾头 右附睾头 左附睾体 右附睾体 左附睾尾 右附睾尾 左侧 右侧
1 – – + + – – – – – –
2 – + – + – + – + – +
3 – – – – – – – – – –
图2 三例先天性输精管缺如合并肾脏畸型患者c.-966 T>G启动子突变测序结果注：图a中箭头表示c.-966 T>G的正常序列结果；图b中箭头表示患者1中c.-966 T>G的杂合启动子突变；图c中箭头表示患者2中c.-966 T>G的纯合子启动子突变；图d中箭头表示患者3中c.-966 T>G的纯合子启动子突变。
表2 三例先天性输精管缺如合并肾脏畸型患者的临床特征和CFTR突变情况
患者编号 年龄（岁） CAVD类型 肾脏情况 突变(Het/Homo) 内含子9的m(TG)n(T) V470M单核苷酸多态性
1 26 CBAVD 上极融合马蹄肾 c.-996T>G (Het) 12(TG)7T/12(TG)7T p.Val470Met (Het)
2 40 CUAVD 左侧肾脏缺如 c.-996T>G (Homo) 12(TG)7T/12(TG)7T p.Val470Met (Homo)
3 27 CBAVD 下极融合马蹄肾 c.-996T>G (Homo) 11(TG)7T/11(TG)9T -
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