The spectrum of fungal colonization and their attributable effects on cystic fibrosis patients with rare CFTR genetic mutations

Abstract

Chronic airway colonization by bacteria and fungi is very common in CF patients, causing irreversible lung damage. It is known that rates of fungal infections are much lower than those of bacterial infections, however they can worsen the medical condition of CF patients. In this study, we identify the most common fungal species isolated from 31 adult CF patients in Qatar and analyze their correlation with lung function, pulmonary exacerbations, bronchial asthma, and pancreatic insufficiency. Mycological evaluation, as well as medical records, were reviewed for the patients regularly under the adult CF service at Hamad General Hospital in the period between 2017–2019. All CF patients included in this study carry rare CFTR mutations. The majority of those patients (n = 25) carried the c.3700A>G; I1234V mutation, whereas three patients carried the heterozygous mutation (c.1657C>T and c.1115A>T) and the remaining three carried the homozygous mutation (c.920G>A). Twenty-two of the adult CF participants (70.9%) were colonized with fungal species regardless of the type of the CFTR mutation. Candida and Aspergillus species were the most common, colonizing 81% and 45% of the patients, respectively. For Candida colonized patients, Candida dubliniensis was the most frequently reported species (55.6%), whereas Aspergillus fumigatus colonization was the most common (50.0%) among Aspergillus colonized patients. These identified fungal pathogens were associated with poor lung function, pancreatic insufficiency, and asthma in this cohort. Such colonization could possibly aggravate the most known CF complications, notably pulmonary exacerbations, asthma, and pancreatic insufficiency.