CHEST
Clinical InvestigationsFrequency of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and 5T Allele in Patients With Allergic Bronchopulmonary Aspergillosis
Section snippets
Subjects
Subjects included all patients identified as having ABPA (bothwith signs of disease activity and in remission) in the diagnosticregistries of the chest medicine departments of one university hospital(Cliniques Universitaires de Mont-Godinne) and one community-basedhospital (Cliniques St Luc, Bouge), both located in nearbyNamur. The first institution cares for patients from all Wallonia (the French-speaking part of Belgium), while the latter mostly recruits in the Namur province. The diagnosis
Results
Of the 28 patients with a diagnosis of ABPA and who were alive atthe time of the study, 1 patient did not agree to participate in thestudy and 6 patients (2 patients from the community-based hospital)were excluded because they did not meet the above-detailed diagnosticcriteria for ABPA. From the remaining 21 patients, 4 patients came fromthe community-based hospital (patients 5, 16, 17, 18; Table 1). The characteristics of the 21 patients with ABPA are presented inTable 1. Six patients
Discussion
In this study, we found the frequency of the studied CFTRmutations to be significantly higher in ABPA patients than it was ineither allergic asthmatics with out sensitization to Afumigatus or in subjects seeking genetic counseling for reasonsother than CF. These findings are consistent with those reported in astudy by Miller et al,12 although we identified awider spectrum of CFTR mutations in ABPA patients. Theseinvestigators12 analyzed the coding region of the CFTRgene in 11 white patients
ACKNOWLEDGMENT
The authors thank Mss. N. Lanoy and C. Walon fortheir assistance in performing genetic studies, Dr. J. Jamart forperforming statistical analysis, and Mrs. L. Schubert for reviewing thearticle.
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Cited by (79)
ECFS standards of care on CFTR-related disorders: Identification and care of the disorders
2024, Journal of Cystic FibrosisEosinophilic Lung Diseases
2023, Immunology and Allergy Clinics of North AmericaECFS standards of care on CFTR-related disorders: Updated diagnostic criteria
2022, Journal of Cystic FibrosisCitation Excerpt :The expanding body of phenotypic and genotypic information suggests that the clinical spectrum of diseases potentially associated with CFTR dysfunction might be larger than just CBAVD, acute recurrent or chronic pancreatitis and disseminated bronchiectasis. A raised frequency of CFTR variants and results of sweat tests, NPD or ICM outside of normal limits have been reported for other conditions, that may also be found in CF, such as ABPA, chronic rhinosinusitis, primary sclerosing cholangitis and aquagenic wrinkling [8,24,92,93,96-103,105-112]. It seems reasonable to speculate that in selected cases these conditions could be related to CFTR dysfunction, possibly in association with other risk factors.
Eosinophilic Lung Diseases
2016, Clinics in Chest MedicineEosinophilic Lung Diseases
2015, Murray and Nadel's Textbook of Respiratory Medicine: Volume 1,2, Sixth EditionEosinophilic Lung Diseases
2012, Immunology and Allergy Clinics of North AmericaCitation Excerpt :Excessive B-cell response and immunoglobulin production in response to circulating IL-4 seem to play a central role.156 Genetic predisposition has been demonstrated, especially with an increased prevalence of heterozygotic cystic fibrosis transmembrane conductance regulator gene mutations in non–cystic fibrosis patients with ABPA157; polymorphism within the IL-4 receptor alpha-chain gene, the IL-10 promoter, and surfactant protein A genes158–160; and association with HLA DR2/5 subtypes161–163; and familial cases have rarely been reported.164 ABPA may, therefore, result from an abnormal host immune response to Aspergillus antigens in the setting of predisposing genetic factors.156