Allergic bronchopulmonary aspergillosis as an initial manifestation of cystic fibrosis: Diagnostic and therapeutic implications in the era of CFTR modulators.
Détails
ID Serval
serval:BIB_ED7DA598F2E6
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Allergic bronchopulmonary aspergillosis as an initial manifestation of cystic fibrosis: Diagnostic and therapeutic implications in the era of CFTR modulators.
Périodique
The journal of allergy and clinical immunology. Global
ISSN
2772-8293 (Electronic)
ISSN-L
2772-8293
Statut éditorial
Publié
Date de publication
11/2024
Peer-reviewed
Oui
Volume
3
Numéro
4
Pages
100294
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: epublish
Publication Status: epublish
Résumé
Allergic bronchopulmonary aspergillosis (ABPA) results from complex hypersensitivity reactions to Aspergillus fumigatus, which often occur in patients with asthma, cystic fibrosis (CF), or CF transmembrane conductance regulator (CFTR)-related disorders. Genetic predisposition, particularly variants of the CFTR gene, probably plays a significant role in the development of ABPA. We present the case of a 20-year-old male with ABPA and bronchiectasis that was initially misdiagnosed as a result of normal sweat chloride values and negative first-level genetic testing results. Comprehensive CFTR gene sequencing revealed 2 pathogenic variants, R347H and D1152H, which together with the clinical phenotype and functional tests, supported the diagnosis of CF. Treatment with elexacaftor/tezacaftor/ivacaftor resulted in significant clinical and functional improvement, including a marked decrease in total IgE levels, suggesting a potential role for CFTR modulators in controlling ABPA. This case illustrates the evolving understanding of CF as a spectrum of disorders in which CFTR dysfunction may manifest subtly and variably, necessitating a high index of suspicion and a comprehensive diagnostic approach to ensure timely treatment in the era of highly effective CFTR modulators.
Mots-clé
Abpa, Allergic bronchopulmonary aspergillosis, CFTR modulators, cystic fibrosis, ABPA
Pubmed
Open Access
Oui
Création de la notice
19/08/2024 7:47
Dernière modification de la notice
20/08/2024 6:23