Study objective: To assess the frequency of cystic
fibrosis transmembrane conductance regulator (CFTR) gene mutations in
patients with allergic bronchopulmonary aspergillosis (ABPA).
Design: Case-control study. All subjects in the study were
screened for the presence of 13 mutations in the CFTR gene (R117H,
621 + 1G->T, R334 W, ΔF508, ΔI507, 1717–1G->A, G542X, R553X,
G551D, R1162X, 3849 + 10kbC->T, W1282X, and N1303K). Moreover, they
were also screened for the presence of the 5T variant in intron 8.
Setting: University hospital and community-based
Patients: Twenty-one white patients with
ABPA participated in the study. The presence of CFTR mutations was also
investigated in 43 white subjects with allergic asthma who did not show
sensitization to Aspergillus fumigatus and in 142
subjects seeking genetic counseling for diseases other than cystic
Results: Six patients with ABPA were
found to be heterozygous for one CFTR mutation, including ΔF508
(n = 2), G542X (n = 1), R1162X (n = 1), 1717–1G->A (n = 1),
and R117H (n = 1). The 5T allele was not detected in ABPA patients.
None of the ABPA patients showed sweat chloride concentrations > 60
mEq/L. The frequency of CFTR mutation carriers was significantly higher
in ABPA patients (6 of 21 patients; 28.5%) than in control asthmatic
subjects (2 of 43 subjects; 4.6%; p = 0.01) and in subjects seeking
genetic counseling (6 of 142 subjects; p < 0.001).
Conclusion: These findings indicate that in patients
without a clinical diagnosis of CF, CFTR gene mutations could be
involved in the development of ABPA, in association with other genetic
or environmental factors.