Summary
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 ΔF508, for example, will have severe pulmonary and pancreatic disease as well as absent vasa, whereas those with other combinations, such as ΔF508/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.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
References
Anguiano A, Oates RD, Amos JA, Dean M, Gerrard B, Stewart C, Maher TA, White MB, Milunsky A (1992) Congenital bilateral absence of the vas deferens: a primarily genital form of cystic fibrosis. JAMA 267:1794–1797
Collins FS, Riordan JR, Tsui LC (1990) The cystic fibrosis gene: isolation and significance. Hosp Pract 25:47–57
Consortium TCFGA (1990) Worldwide survey of the ΔF508 mutation — report from the Cystic Fibrosis Genetic Analysis Consortium. Am J Hum Genet 47:354–359
Czeizel A (1985) Congenital alpasia of the vasa deferentia of autosomal recessive in heritance in two unrelated sib-pairs. Hum Genet 70:288
Davis PB (1992) Cystic fibrosis: new perceptions, new strategies. Hosp Pract [Off] 27:79–118
Dean M, White MB, Amos JA, Gerrard B, Stewart C, Khaw KT, White R, Leppert M (1990) Multiple mutations are found in mildly affected cystic fibrosis patients. Cell 61:863–870
Denning CR, Sommers SC, Quigley HJ (1968) Infertility in male patients with cystic fibrosis. Pediatrics 41:7–17
Dumar V, Gervais R, Rigot J-M, Lafitte JJ, Manouvriers S, Biserte J, Mazeman M, Roussel P (1990) Abnormal distribution of ΔF508 allele in azoospermic men with congenital aplasia of the epididymis and vas deferens. (Letters to the editor.) Lancet I:512
Goldstein M, Schlossberg S (1988) Men with congenital absence of the vas deferens often have seminal vesicles. J Urol 140:85–86
Haliassos A, Chomel JC, Tesson L, Baudis M, Kruh J, Kaplan JC, Kitzis A (1989) Modification of enzymatically amplified DNA for the detection of point mutations. Nucleic Acid Res 17:3606
Heaton ND, Pryor JP (1990) Vasa aplasia and cystic fibrosis. Br J Urol 66:538–540
Holsclaw DS, Perlmutter AD, Jockin H, Shwachman H (1971) Genital abnormalities in male patients with cystic fibrosis. J Urol 106:568–574
Hyde SC, Emsley P, Hartshorn MJ (1990) Structural model of ATP-binding proteins associated with cystic fibrosis, multidrug resistance and bacterial transport. Nature 346:362–367
Jequier AM, Ansell ID, Bullimore NJ (1985) Congenital absence of the vasa deferentia presenting with infertility. J Androl 6:15–19
Kaplan E, Shwachman H, Perlmutter AD, Rule A, Khaw K-T, Holsclaw DS (1968) Reproductive failure in males with cystic fibrosis. N Engl J Med 279:65–69
Kerem B, Rommens JM, Buchanan JA, Markiewick D, Cox TK, Chakravarti A, Buchwald M, Tsui LC (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245:1073–1080
Kleczkowska A, Fryns JP, Steeno O, Berghe H van der (1989) On the familial occurrence of congenital bilateral absence of the vas deferens. Clin Genet 35:268–271
Knowles MR, Church NL, Waltner WE, Yankaskas JR, Gilligan P, King M, Edwards LJ, Helms RW, Boucher RC (1990) A pilot study of aerosolized amiloride for the treatment of the lung disease in cystic fibrosis. N Engl J Med 322:1189–1194
Kuligowska E, Baker CE, Oates RD (1992) Male infertility: role of transrectal US in diagnosis and management. Radiology 185:353–360
Landing BH, Wells TR, Wang C-I (1969) Abnormality of the epididymis and vas deferens in cystic fibrosis. Arch Phathol Lab Med 88:569–580
Lemna WK, Feldman GL, Kerem B, Fernbach SD, Zevkovich EP, O'Brien WE, Riordan JR, Collins FS, Tsui LC, Beaudet AL (1990) Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis. N Engl J Med 322:291–296
Ng ISL, Pace R, Richard MV, Kobayashi K, Kerem B, Tsui LC, Beaudet A (1991) Methods for analysis of multiple cystic fibrosis mutations. Hum Genet 87:613–617
Oates RD (1992) Mircoscopic epididymal sperm aspiration (MESA) in conjunction with advanced reproductive techniques. Rep Urol Tech 2:88–90
Oates RD, Honig S, Berger MJ, Harris D (1992) Microscopic epididymal sperm aspiration (MESA): a new option for the treatment of the obstuctive azoospermia associated with cystic fibrosis. J Assist Reprod Genet 9:36–40
Olson JR, Weaver DK (1969) Congenital mesonephric defects in male infants with mucoviscidosis. J Clin Pathol 22:725–730
Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL (1989) Identification of the cystic fibrosis gene: cloning and characterization of complimentary DNA. Science 245:1066–1073
Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, Zsiga M, Buchwald M, Riordan JR, Tsui LC, Collins FS (1989) Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245:1059–1065
Schellen TMCM, Straaten A van (1980) Autosomal recessive hereditary congenital aplasia of the vasa deferentia in four siblings. Fertil Steril 35:401–404
Schwachman HL (1980) Cystic fibrosis. In: Isselbacher KJ et al (eds) Harrison's principles of internal medicine. McGraw-Hill, St. Louis, pp 1233–1235
Shoshani T, Augarten A, Gazit F, Bashan N, Yahav Y, Rivlin Y, Tal A, Seret H, Yaar L, Kerem E, Kerem B (1992) Association of a nonsense mutation, W1282X, the most common mutation in the Ashkenazi Jewish cystic fibrosis patient population in Israel with severe disease presentation. Am J Hum Genet 50:222–228
Silber SJ, Balmaceda J, Borrero C, Ord T, Asch R (1988) Pregnancy with sperm aspiration from the proximal head of the epididymis: a new treatment for congenital absence of the vas deferens. Fertil Steril 50:525–528
Silber SJ, Ord T, Balmaceda J, Patrizio P, Asch RH (1990) Congenital absence of the vas deferens: the fertilizing capacity of human epididymal sperm. N Engl J Med 323:1785–1792
Silber SJ, Patrizio P, Asch RH (1990) Quantitative evaluation of testicular histology in men with congenital absence of the vas deferens undergoing epididymal sperm aspiration. Human Reprod 5:89–93
Stern RC, Boat TF, Doershuk CF (1982) Obstructive azoospermia as a diagnostic criterion for the cystic fibrosis syndrome. Lancet I:1401–1404
Valman HB, France NE (1969) The vas deferens in cystic fribrosis. Lancet II:566–567
White MB, Amos JA, Man-Ching Hsu J, Gerrard B, Finn P, Dean M (1990) A frame shift mutation in the cystic fibrosis gene. Nature 324:665–667
Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan JR, Rommens J, Tsui LC (1991) Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 10:214–228
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Oates, R.D., Amos, J.A. Congenital bilateral absence of the vas deferens and cystic fibrosis. World J Urol 11, 82–88 (1993). https://doi.org/10.1007/BF00182034
Issue Date:
DOI: https://doi.org/10.1007/BF00182034