CONGENITAL BILATERAL ABSENCE OF THE VAS-DEFERENS AND CYSTIC-FIBROSIS - A GENETIC COMMONALITY

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 phenoty pic expression of the patient. Perhaps all patients homozygous for DEL TAF508, for example, will have severe pulmonary and pancreatic disease as well as absent vasa, whereas those with other combinations, such a s DELTAF508/D1270N, will be unaffected in terms of pulmonary and pancr eatic function but will have absent vasa. Besides contributing to a be tter understanding of the nature of CBAVD, this linkage of CF and CBAV D most importantly mandates genetic screening and counseling for appro priate family members and even the patient's spouse. In addition, a br oader understanding of CF is now at hand, as this brings a whole new c ohort of patients under the CF umbrella. Many of these will have at le ast one, if not two, rare or novel CF gene mutations. Once all of thes e mutations have been detected and defined, our knowledge of the CF ge ne, its mutations, and their implications will be dramatically expande d.