Reconsidering the Diagnosis: Abnormal Sweat Chloride Tests in Non-CF Bronchiectasis.

ABSTRACT:

Introduction

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).

Methods

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

SUBMITTER: Huang RL 

PROVIDER: S-EPMC11776038 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature