title: Airway inflammation and infection in congenital bilateral absence of the vas deferens.
abstract: In cystic fibrosis (CF), airway disease begins early in life. Bacteria and elevated levels of neutrophils and inflammatory mediators have been detected in bronchoalveolar lavage (BAL) fluid from infants with CF. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) are common in men with congenital bilateral absence of the vas deferens (CBAVD) and it has been suggested that this syndrome represents a mild form of CF. We hypothesized that men with CBAVD also have subclinical pulmonary disease. Bronchoscopy with BAL, viral and quantitative bacterial cultures, and analyses of total and differential cell count, cytokines, and free neutrophil elastase was performed in eight men with CBAVD, who had mutations in the CFTR and intermediate or elevated sweat chloride levels, and in four healthy control subjects. There was light growth of Staphylococcus aureus in one of eight men with CBAVD, and small numbers of opportunistic gram-negative bacteria in six of eight men with CBAVD and in one control subject. BAL cell counts and neutrophil elastase were within the normal range. Interleukin-8 and tumor necrosis factor-alpha levels were higher for men with CBAVD than for control subjects. These data suggest that mutations in the CFTR in men with CBAVD, in addition to causing infertility, lead to subclinical bacterial pulmonary infection and inflammation consistent with mild CF.
authors.affiliation: Department of Respiratory Medicine and Allergology, Sahlgrenska University Hospital, Göteborg University, Sweden.
authors.forename: Marita
authors.initials: M
authors.lastname: Gilljam
authors.forename: Yuri
authors.initials: Y
authors.lastname: Moltyaner
authors.forename: Gregory P
authors.initials: GP
authors.lastname: Downey
authors.forename: Roslyn
authors.initials: R
authors.lastname: Devlin
authors.forename: Peter
authors.initials: P
authors.lastname: Durie
authors.forename: André M
authors.initials: AM
authors.lastname: Cantin
authors.forename: Julian
authors.initials: J
authors.lastname: Zielenski
authors.forename: D Elizabeth
authors.initials: DE
authors.lastname: Tullis
mesh_terms: D000328:Adult; D001980:Bronchi / Q000473:pathology; D001992:Bronchoalveolar Lavage Fluid / Q000737:chemistry / Q000166:cytology / Q000382:microbiology; D002452:Cell Count; D003550:Cystic Fibrosis / Q000150:complications* / Q000175:diagnosis; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D016207:Cytokines / Q000032:analysis; D006801:Humans; D066298:In Vitro Techniques; D007249:Inflammation; D018836:Inflammation Mediators / Q000032:analysis; D019272:Leukocyte Elastase / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009504:Neutrophils / Q000378:metabolism; D012141:Respiratory Tract Infections / Q000150:complications* / Q000175:diagnosis; D014649:Vas Deferens / Q000002:abnormalities*
chemical_list: C505032:CFTR protein, human; D016207:Cytokines; D018836:Inflammation Mediators; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D019272:Leukocyte Elastase