Reconsidering the diagnosis: Abnormal sweat chloride tests in non-CF
bronchiectasis
Abstract
While the diagnosis of cystic fibrosis (CF) is often straightforward and
reliant on correlation between genetic testing and clinical signs and
symptoms, there is a subset where the distinction is not nearly as
clearcut. This has previously been reported in patients identified
through newborn screening but not meeting full CF diagnostic criteria,
earning the label of CF Screen Positive, Inconclusive Diagnosis (CFSPID)
instead. A homologous diagnostic category in adults is named CF
Transmembrane Conductance Regulator-Related Disorder (CFTR-RD). Through
a retrospective chart review, this study reports on a relatively large
adult cohort (n=23) that presented to pulmonology clinic at a single
center with intermediate or positive sweat chloride tests but
non-diagnostic full CFTR gene analysis. Median sweat chloride
result was 48 mmol/L, and a majority of the cohort had chronic lung
disease with atypical pathogens on sputum culture, including Pseudomonas
aeruginosa, non-tuberculous Mycobacteria, Acinetobacter species, amongst
others. This clinical picture suggests CFTR dysfunction or
similar mechanism in the absence of an identified genetic cause.
Alternate chloride channels and their respective genes or candidates of
genetic modifiers to the CF-phenotype could be targets of further
research in this cohort or similar patients. Such genetic modifiers
include loci that have been implicated in inflammation, the CFTR
interactome, and/or co-/post-translational modification of CFTR.