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Chinese Journal of Endourology(Electronic Edition) ›› 2023, Vol. 17 ›› Issue (02): 110-113. doi: 10.3877/cma.j.issn.1674-3253.2023.02.003

• Clinical Research • Previous Articles     Next Articles

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 Online:2023-04-01 Published:2023-03-23
  • Contact: Hao Zhang

Abstract:

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

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