Related Experiment Video
Updated: Aug 30, 2026

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
Published on: August 29, 2025
Nonclassic cystic fibrosis and CFTR-related diseases
1Johns Hopkins Adult CF Program, Division of Pulmonary and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA. mboyle@jhmi.edu
Purpose Of Review:
To review the spectrum of disease caused by mutations in the cystic fibrosis (CF) gene.
Recent Findings:
The growing recognition of "atypical" cases of cystic fibrosis presenting in adolescence or adulthood and manifested by disease in only one or two organ systems, along with CF diagnostic criteria based not only on sweat chloride values but genetic screening and nasal ion transport measurements, have made the diagnosis of CF less straightforward for many clinicians.
Summary:
This review seeks to clarify the key diagnostic criteria for CF and uses the Cystic Fibrosis Foundation's Consensus Diagnostic Guidelines and recent publications to discuss the characteristics of classic CF, nonclassic CF, and CFTR-related diseases.
More Related Videos
07:04Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients
Published on: February 11, 2017
08:00Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
Published on: April 11, 2018
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...
Chronic Obstructive Pulmonary Disease III: Chronic Bronchitis Features
Chronic Pancreatitis II: Pathophysiology
Pharmacogenomics: Identification of New Drug Targets
Drugs for Treatment of Constipation-Predominant IBS