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[Cystic fibrosis in a 70-year-old woman]
Lene Søndberg Bruun1, Michael Skov Jensen
1Lungemedicinsk afdeling, Skive Sygehus, DK-7800 Skive.
Ugeskrift for Laeger
|May 25, 2002
Insights
Cystic fibrosis is typically diagnosed in childhood, but this case shows it can occur in older adults. Diagnosis should be considered in elderly patients, even with rare mutations like R117C.
Area of Science:
- Medical Genetics
- Pulmonology
- Clinical Medicine
Background:
- Cystic fibrosis (CF) is a genetic disorder usually diagnosed in early childhood.
- The disease typically affects respiratory and digestive functions.
- Patients with CF historically had a limited life expectancy, rarely exceeding 40 years.
Observation:
- A 70-year-old woman presented with symptoms leading to a cystic fibrosis diagnosis.
- This patient was found to have the rare R117C mutation, a less common variant of CF.
Findings:
- The diagnosis of cystic fibrosis in an elderly patient challenges typical presentation timelines.
- The R117C mutation, while rare, can lead to cystic fibrosis in later life.
- This case highlights the variability in CF presentation and genetic influence.
Implications:
- Cystic fibrosis should be considered in the differential diagnosis for older adults presenting with relevant symptoms.
- Genetic testing for CF, including rare mutations, may be warranted in geriatric populations.
- This case expands the understanding of the phenotypic spectrum and age of diagnosis for cystic fibrosis.
Abstract:
Cystic fibrosis is usually diagnosed in early childhood, and patients rarely live beyond the age of 40. We present a case of a 70-year-old woman, in whom cystic fibrosis was diagnosed with the rare mutation, R117C. Cystic fibrosis should therefore also be considered in older patients.