Congenital bilateral absence of the vasa deferentia and related respiratory disease.
In a meaningful proportion of cases, CBAVD has been recognised as a probable consequence of cftr gene mutations. This lead to a further enlargement of the spectrum of clinical pictures due to "cftr deficiency". More recently, the identification of a polymorphism in intron 8 regulating the level of correct cftr transcription, shed new light on the genotype-fenotype correlation of cftr mutations. Unfortunately, little information is still available on the clinical manifestations of CBAVD other than infertility. History, clinical picture, sweat test and genotype were carefully evaluated in a series of 21 patients affected by CBAVD, selected on the basis of otherwise unexplained obstructive azoospermia. History collection was especially addressed to respiratory symptoms. Family history was always negative for CF. Nevertheless, personal history showed respiratory symptoms in 18 cases (86%) 9/21 (43%) patients suffered from chronic sinusitis and one of these had had a pneumothorax. Other 9 (43%) patients had chronic nasal obstruction, due to recurrent nasal poliposis in two cases. Sweat test was clearly abnormal in 15/21 (71%) and borderline in the remaining 6 patients (29%). Genetic analysis allowed detection of one mutation in 15/21 patients (71%). Our data show that respiratory symptoms may be present in CBAVD patients, so that CBAVD cannot be merely considered a "genital form" of CF.
De Rose
Aldo F
AF
Clinica Urologica Luciano Giuliani, Ospedale San Martino, Università di Genova, Genova, Italy. aldoderose@libero.it
Giglio
Matteo
M
Gallo
Fabrizio
F
Romano
Luca
L
Carmignani
Giorgio
G
D000328:Adult; D002908:Chronic Disease; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005817:Genetic Counseling; D005838:Genotype; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D007438:Introns; D008297:Male; D009154:Mutation; D015508:Nasal Obstruction / Q000209:etiology / Q000235:genetics; D009298:Nasal Polyps / Q000150:complications; D009845:Oligospermia / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D010641:Phenotype; D011030:Pneumothorax / Q000209:etiology / Q000235:genetics; D011110:Polymorphism, Genetic; D012008:Recurrence; D012140:Respiratory Tract Diseases / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D012852:Sinusitis / Q000209:etiology / Q000235:genetics; D013147:Spirometry; D014649:Vas Deferens / Q000002:abnormalities*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator