Evidence of mild respiratory disease in men with congenital absence of thevas deferens

Cystic fibrosis (CF) is a severe disorder, whose main characteristics are, in addition to congenital absence of the vas deferens (CAVD), progressive l ung disease, pancreatic insufficiency and elevated sweat chloride levels; C AVD without any other manifest clinical evidence is commonly suggested to b e a form of CF with primarily genital expression. We undertook this study t o test the hypothesis that men with a CAVD phenotype could be more CF-like than it is usually assumed. Each subject from a population of 42 patients suffering from CAVD was scree ned for a panel of 16 mutations plus the intron 8 5-thymidine allele of the CF gene (5T): and underwent a thorough clinical evaluation which included a detailed anamnesis, anthropometric data, chest and paranasal sinuses X-ra ys, pulmonary function tests, sputum cultures, stool chymotrypsin determina tion, sweat test and, in a limited number of patients, Nasal Potential Diff erence (NPD) measurement. The genotype analysis detected one compound heterozygote, 23 heterozygotes and 15 individuals carrying the 5T allele; sweat chloride was positive in s ix, borderline in 11 and negative in 25 subjects; NPD was abnormal in 2/12 patients. Medical history and clinical examination were consistent with res piratory disease in 20 cases; there was radiological evidence of pulmonary hyperinflation in 37/39 and of sinus disease in 20/42 patients; Staphylococ cus aureus was cultivated in the sputum of 9/36, Haemophilus influentiae in 3/36 subjects and three patients showed functional evidence of airway obst ruction. These findings were equally distributed among sweat positive, bord erline and negative patients. These results raise questions about the supposed benignancy of the CAVD con dition. A close follow-up of men with CAVD could ascertain potential compli cations. (C) 1999 HARCOURT PUBLISHERS LTD.