Oates R D, Amos J A
Department of Urology, New England Male Reproductive Center, Boston University School of Medicine, MA.
World J Urol. 1993;11(2):82-8. doi: 10.1007/BF00182034.
CF and CBAVD are really just ends of a clinical spectrum. The type and nature of the mutations in the CF gene probably determine the phenotypic expression of the patient. Perhaps all patients homozygous for delta F508, for example, will have severe pulmonary and pancreatic disease as well as absent vasa, whereas those with other combinations, such as delta F508/D1270N, will be unaffected in terms of pulmonary and pancreatic function but will have absent vasa. Besides contributing to a better understanding of the nature of CBAVD, this linkage of CF and CBAVD most importantly mandates genetic screening and counseling for appropriate family members and even the patient's spouse. In addition, a broader understanding of CF is now at hand, as this brings a whole new cohort of patients under the CF umbrella. Many of these will have at least one, if not two, rare or novel CF gene mutations. Once all of these mutations have been detected and defined, our knowledge of the CF gene, its mutations, and their implications will be dramatically expanded.
囊性纤维化（CF）和先天性双侧输精管缺如（CBAVD）实际上只是临床谱系的两端。CF基因中突变的类型和性质可能决定患者的表型表达。例如，或许所有纯合子ΔF508的患者都会有严重的肺部和胰腺疾病以及输精管缺如，而那些具有其他组合的患者，如ΔF508/D1270N，肺部和胰腺功能不会受到影响，但会有输精管缺如。除了有助于更好地理解CBAVD的本质外，CF与CBAVD的这种联系最重要的是要求对合适的家庭成员甚至患者的配偶进行基因筛查和遗传咨询。此外，现在对CF有了更广泛的认识，因为这将一整群新的患者纳入了CF的范畴。这些患者中许多人至少会有一个（如果不是两个的话）罕见或新的CF基因突变。一旦所有这些突变都被检测到并明确，我们对CF基因、其突变及其影响的认识将得到极大扩展。
