Diagnosis of cystic fibrosis in adults with diffuse bronchiectasis.
We assessed the contribution of the sweat test, genotyping and nasal potential difference (NPD) in the diagnosis of cystic fibrosis (CF) in adults with diffuse bronchiectasis (DB). Among 601 adults referred for DB from 1992 to 2001, 46 were diagnosed with CF. The sweat test was positive in 37 patients and normal or intermediate in nine patients. Two CF mutations were identified in 18 patients (39%) by screening for 31 mutations and in 36 patients (78%) after complete genetic analysis. NPD was suggestive of CF in 71% of the patients. The combination of the sweat test and genetic analysis led to the diagnosis of CF in 45 patients. In the nine patients with normal or intermediate sweat test, the diagnosis was confirmed by screening for 31 mutations in five, by complete genetic screening in three, and by NPD in the remaining patient. Searching for CF should start with sweat test. If the sweat test is normal or intermediate, screening for 31 mutations may help to diagnose CF. A complete genetic analysis is indicated when only one mutation is detected and/or when other clinical features, such as obstructive azoospermia or pancreatic insufficiency, are suggestive of CF. NPD measurement is indicated in controversial cases.
Hubert
Dominique
D
Service de Pneumologie, Groupe Hospitalier Cochin AP-HP, Université Paris 5, Paris, France. dominique.hubert@cch.ap-hop-paris.fr
Fajac
Isabelle
I
Bienvenu
Thierry
T
Desmazes-Dufeu
Nadine
N
Ellaffi
Madiha
M
Dall'ava-Santucci
Josette
J
Dusser
Daniel
D
D000293:Adolescent; D000328:Adult; D001987:Bronchiectasis / Q000150:complications / Q000175:diagnosis*; D002712:Chlorides / Q000378:metabolism; D015331:Cohort Studies; D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000032:analysis* / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008564:Membrane Potentials; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D009297:Nasal Mucosa / Q000378:metabolism; D012129:Respiratory Function Tests; D012189:Retrospective Studies; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index; D013542:Sweat / Q000378:metabolism*
C505032:CFTR protein, human; D002712:Chlorides; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator