Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens

Chest

Volumn 110, Issue 2, 1996, Pages 440-445

  Colin, Andrew A ^a,b,g   Sawyer, Susan M ^a,c   Mickle, John E ^d   Oates, Robert D ^e   Milunsky, Aubrey ^d,e   Amos, Jean A ^d,e,f  

^a Kentucky Children's Hospital   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^d BOSTON UNIVERSITY   (United States)

^e BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f GLAXOSMITHKLINE   (United Kingdom)

^g BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

CFTR mutations; congenital bilateral absence of the vas deferens; cystic fibrosis; sweat test

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; DISEASE ASSOCIATION; HETEROZYGOSITY; HUMAN; LUNG FUNCTION TEST; MALE; MALE GENITAL TRACT MALFORMATION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SWEAT TEST; VAS DEFERENS;

EID: 0029782355     PISSN: 00123692     EISSN: None     Source Type: Journal    
DOI: 10.1378/chest.110.2.440     Document Type: Article

References (29)

1. Dumur V, Gervais R, Rigot JM, et al. Abnormal distribution of CF DF508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens. Lancet 1990; 336:512
2. Anguiano A, Oates RD, Amos JA, et al. Congenital bilateral absence of the vas deferens: a primarily genital form of cystic fibrosis. JAMA 1992; 267:1794-97
3. Mereier B, Verlingue C, Lissens W, et al. Is congenital bilateral absence of the vas defereus a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. Am J Hum Genet 1995; 56:272-77
4. Denning CR, Sommers SC, Quigley HJ. Infertility in male patients with cystic fibrosis. Pediatrics 1968; 41:7-17
5. Kaplan EC. Reproductive failure in males with cystic fibrosis. N Engl J Med 1968; 279:65-9
6. Landing BH, Wells TR, Wang CI. Abnormality of the epididymis and vas deferens in cystic fibrosis. Arch Pathol 1969; 88:569-80
7. Gan KH, Veeze HJ, Van den Onweland AM, et al. A cystic fibrosis mutation associated with mild lung disease. N Engl J Med 1995; 333:95-9
8. Oates RD, Amos JA. The genetic basis of congenital bilateral absence of the vas deferens. J Androl 1994; 15:1-8
9. Kiesewetter S, Macek M Jr, Davis C, et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet 1995; 5:274-78
10. Gibson LE, Cooke RE. A test for the concentration of sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics 1959; 23:545-49
11. Schales O, Schales SS. A simple and accurate method for the determination of chloride in biological fluids. J Biol Chem 1941; 140:879-84
12. Knudson R, Lebowitz MD. Holberg CJ, et al. Changes in the normal maximal expiratory flow-volume curve with growth and aging. Am Rev Respir Dis 1983; 127:725-34
13. Cook CD, Hamann JF. Relation of lung volumes to height in healthy persons between the ages of 5 and 38 years. J Pediatr 1961; 59:710-14
14. 2) and triceps skinfold thickness. Am J Clin Nutr 1991; 53:839-46
15. Osborne LR, Lynch M, Middleton PG, et al. Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens. Hum Mol Genet 1993; 2:1605-09
16. Augarten A, Yahav Y, Kerem BS, et al. Congenital absence of the vas deferens in the absence of cystic fibrosis. Lancet 1994; 344:1473-74
17. Gabriel SE, Brigman KN, Koller BH, et al. Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model. Science 1994; 266:107-09
18. Egan M, Flotte T, Afione S, et al. Defective regulation of outwardly rectifying Cl- channels by protein kinase A corrected by insertion of CFTR. Nature 1992; 358:581-84
19. Stutts MJ, Canessa CM, Olsen JC, et al. CFTR as a cAMP-dependent regulator of sodium channels. Science 1995; 269:847-50
20. Kerem E, Kerem BS, Rommens J, et al. The relation between genotype and phenotype in cystic fibrosis - analysis of the most common mutation (ΔF508). N Engl J Med 1990; 323:1517-22
21. The Cystic Fibrosis Genotype-Phenotype Consortium. Correlation between genotype and phenotype in patients with cystic fibrosis. N Engl J Med 1993; 329:1308-13
22. Durieu ID, Bey-Omar F, Rollet J, et al. Diagnostic criteria for cystic fibrosis in men with congenital absence of the vas deferens. Medicine 1995; 74:42-7
23. Welsh MJ, Smith AE. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 1993; 73:1251-54
24. Chu CS, Trapnell BC, Curristin S, et al. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance reegulator mRNA. Nat Genet 1993; 3:151-56
25. Zieleski J, Patrizio P, Corey M, et al. CFTR gene variant for patients with congenital absence of vas deferens. Am J Hum Genet 1995; 57:958-60
26. Chillon M, Casals T, Mercier B, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995; 332:147.5-80
27. Kirk JM, Keston M, McIntosh I, et al. Variation of sweat sodium and chloride with age in cystic fibrosis and normal populations: further investigations in equivocal cases. Ann Clin Biochem 1992; 29:145-52
28. Hall SK, Stableforth DE, Green A. Sweat sodium and chloride concentrations - essential criteria for the diagnosis of cystic fibrosis in adults. Ann Clin Biochem 1991; 27:318-20
29. Highsmith WE, Burch LH, Zhou Z, et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med 1994; 331:974-80