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[Detection of the G551D mutation in a patient with nasal polyps]
Z Kuchynková1, M Macek, M Holcát
1ORL klinika 1. LF UK, Praha.
Abstract:
Atypical forms of cystic fibrosis can be manifested by a mild affection of the airways in adult age. They are the phenotypic manifestation of less frequent mutations for CF. The authors present the case-history of a man who developed the first symptoms of respiratory disease at the age of 16 years. He had relapsing nasal polyps, sinusitis, bronchial asthma, intolerance of acetylsalicylic acid. Bacteriological examination revealed repeatedly Pseudomonas aeruginosa on the respiratory mucosal membranes. The levels of the chloride ion in sweat were normal, genetic examination revealed a mutation of the gene for cystic fibrosis, G 551 D.
Insights
Mild cystic fibrosis (CF) can present in adults with airway issues. This case highlights a G551D mutation causing adult-onset respiratory symptoms, including sinusitis and asthma, despite normal sweat chloride levels.
Area of Science:
- Pulmonology
- Medical Genetics
Background:
- Atypical cystic fibrosis (CF) can present in adulthood with milder respiratory symptoms.
- Less common CFTR gene mutations often underlie these atypical presentations.
Observation:
- A 16-year-old male experienced recurrent nasal polyps, sinusitis, bronchial asthma, and aspirin intolerance.
- Persistent Pseudomonas aeruginosa respiratory infections were noted.
- Initial sweat chloride tests were within normal limits.
Findings:
- Genetic testing identified the G551D mutation in the CFTR gene.
- This mutation is a known cause of cystic fibrosis, even with normal sweat tests.
Implications:
- Highlights the importance of genetic testing for cystic fibrosis in adults with unexplained respiratory conditions.
- Suggests that atypical CF presentations require a high index of suspicion, even with normal sweat chloride results.
- Underscores the diverse phenotypic spectrum of cystic fibrosis.