Related Experiment Video
Updated: Jul 8, 2026

Growing a Cystic Fibrosis-Relevant Polymicrobial Biofilm to Probe Community Phenotypes
Published on: April 19, 2024
Diagnosis of atypical CF: a case-report to reflect
F Alghisi1, A Angioni2, A C Tomaiuolo2
1Unit of Cystic Fibrosis, Bambino Gesù Children's Hospital-Rome, Italy.
Abstract:
Non-classic Cystic Fibrosis (CF) still represents a difficult entity to diagnose. We present a case of two sisters affected by mild pulmonary symptoms started at puberty, carriers of the F508del mutation associated with the T5TG13 combination. We discuss the clinical utility of TG repeat testing in individuals carrying the T5 variant. Furthermore, this case-report leads to reflect on the natural history of CF and the correct management of its atypical forms.
Related Concept Videos
Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Cystic Fibrosis: Management
Sinus disease and chronic sinusitis...
Atypical Pneumonia
Chronic Obstructive Pulmonary Disease-IV: Assessement and Diagnostic Studies
Medical History