Related Experiment Video
Updated: Aug 10, 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
A missed cystic fibrosis diagnosis in childhood
Salvatore Leonardi1, Concetta Sciuto, Mario La Rosa
1Department of Pediatrics, University of Catania, Catania, Italy.
Insights
This case highlights a 46-year-old man diagnosed late with cystic fibrosis (CF) due to a specific CF transmembrane conductance regulator (CFTR) mutation. Early diagnosis is crucial, as CF can be missed in childhood, impacting adult health.
Area of Science:
- Medical Genetics
- Pulmonology
- Gastroenterology
Background:
- Cystic Fibrosis (CF) is a genetic disorder typically diagnosed in childhood.
- Certain CF transmembrane conductance regulator (CFTR) mutations can lead to milder phenotypes and delayed diagnosis.
- Adult-onset CF presents with diverse symptoms, often mimicking other chronic conditions.
Observation:
- A 46-year-old male presented with infertility and chronic cough since age 7.
- Medical history included elevated transaminases, hepatic steatosis, sinusitis, chronic bronchitis, and duodenal inflammation.
- Diagnostic tests revealed near-abnormal sweat chloride levels (77 mEq/L), bronchiectasis, Pseudomonas aeruginosa infection, and severe airflow limitation.
Findings:
- CFTR mutation analysis identified homozygous 3849+10kbC>T mutation.
- This specific mutation is associated with normal sweat tests in some adult CF patients, contributing to diagnostic delays.
- The patient exhibited classic CF complications including chronic respiratory and hepatic issues.
Implications:
- Adults presenting with chronic respiratory, gastrointestinal, or hepatic symptoms should be evaluated for cystic fibrosis.
- Increased awareness of CFTR mutations like 3849+10kbC>T is necessary for timely diagnosis in adults.
- This case underscores the importance of considering CF in differential diagnoses for unexplained chronic illnesses in adults.
Abstract:
We describe a suggestive case of cystic fibrosis (CF) with a CF transmembrane conductance regulator (CFTR) mutation compatible with survival in which the diagnosis was missed in childhood. A 46-year-old man presented to our pediatric hospital with infertility and chronic cough, which had been present since 7 years of age. History was notable for high transaminase levels, hepatic steatosis sinusitis, chronic bronchitis, and duodenal inflammation. A sweat test was performed in duplicate and revealed a near-abnormal chloride level for adult age (77 mEq/L; normal value < 72 mEq/L). Significant findings of chronic bronchitis and bronchiectasis were found on x-ray film. A culture of sputum was positive for Pseudomonas aeruginosa. Spirometry showed a severe airflow limitation (FEV, 40%, and FVC, 61% of the predicted). CFTR mutation analysis showed the presence of homozygous 3849+10kbct mutation. Among CFTR mutations, 3849+ 10kbC>T has been reported frequently in adult patients with normal sweat tests and may cause a late diagnosis of CF. We conclude that because the diagnosis of CF might be missed during childhood, the diagnosis of CF in adults should be considered by practitioners, in subjects with chronic respiratory, gastrointestinal, and hepatic complaints.
