Aa. Colin et al., PULMONARY-FUNCTION AND CLINICAL OBSERVATIONS IN MEN WITH CONGENITAL BILATERAL ABSENCE OF THE VAS-DEFERENS, Chest, 110(2), 1996, pp. 440-445
Congenital bilateral absence of the vas deferens (CBAVD) was once thou
ght to be a distinct clinical entity, but genetic similarities in men
with cystic fibrosis (CF) and CBAVD are described increasingly, We eva
luated the clinical status, growth and nutritional state, and respirat
ory function of 18 men with CBAVD to determine whether these men with
different CF transmembrane regulator (CFTR) genotypes may have clinica
l evidence of mild CF, Following a thorough history and examination, p
ulmonary function tests, sweat test, and renal ultrasound were perform
ed, Genetic evaluation for 50 known CF mutations, screening for privat
e mutations (single-strand conformational polymorphism and direct sequ
encing), and assay of the length of the polypyrimidine tract in the sp
lice site acceptor of intron 8 was performed, A history of pulmonary d
isease was present in three, and an additional man had some features s
uggestive of malabsorption, Results of general physical examination an
d anthropomorphic measurements were unremarkable in all patients, with
a mean (SD) body mass index of 26 (3). Pulmonary function tests of la
rge and small airway function as web as lung volumes were normal in al
l except one whose results were consistent with moderate asthma. Five
men were compound heterozygotes for CFTR mutations, four of whom had p
ositive sweat tests (sweat chloride >60 mEq/L), Twelve men mere hetero
zygotes for CFTR mutations while no mutations were identified in one m
an. Although putative etiologic factors may suggest that men with CBAV
D and CFTR mutations could be considered within the spectrum of clinic
al CF, the authors suggest that in men with CBAVD without any other cl
inical features of CF, the diagnosis of CF may not be made.