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- Title
Congenital bilateral absence of vas deferens in the absence of cystic fibrosis.
- Authors
Augarten, A; Yahav, Y; Kerem, B S; Halle, D; Laufer, J; Szeinberg, A; Dor, J; Mashiach, S; Gazit, E; Madgar, I
- Abstract
The high frequency of mutations in the cystic fibrosis gene in patients with congenital bilateral absence of vas deferens (CBAVD) has raised the question whether all of them have a genital form of cystic fibrosis. We investigated 47 CBAVD patients by ultrasonography, 10 (21%) had renal malformations and 37 (79%) did not. In the former group, no cystic fibrosis mutations were found and sweat chloride concentrations were normal. In the latter group, 18 patients (49%) carried at least one cystic fibrosis mutation and sweat chloride was high in 17 of 26 tested (65%). Our findings suggest that CBAVD patients with renal malformations do not necessarily have cystic fibrosis.
- Publication
Lancet (London, England), 1994, Vol 344, Issue 8935, p1473
- ISSN
0140-6736
- Publication type
Journal Article
- DOI
10.1016/s0140-6736(94)90292-5