PDF(Pubmed)
Abstract：
Congenital bilateral absence of the vas deferens (CBAVD) occurs in almost all men with cystic fibrosis. Prevailing theories on this pathophysiology relate to pathogenic mutations in the cystic fibrosis transmembrane regulator gene leading to agenesis or obliteration of vas deferens in utero. In this study, we present a case of two brothers with congenital anomalies of the vas deferens who were found to have carried a rare, heterozygous cystic fibrosis transmembrane regulator variant p.r347h without pulmonary or gastrointestinal signs or symptoms of cystic fibrosis .
摘要：
先天性双侧输精管缺失（CBAVD）发生在几乎所有囊性纤维化的男性中。关于这种病理生理学的流行理论涉及囊性纤维化跨膜调节因子（CFTR）基因的致病性突变，导致子宫内输精管的发育不全或闭塞。在这项研究中,我们介绍了一个案例，两个兄弟患有先天性异常的输精管，他们被发现携带一种罕见的，杂合CFTR变体p.r347h，无CF的肺部或胃肠道体征或症状。
