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Cystic fibrosis in adults: delayed diagnosis in three siblings
Insights
Cystic fibrosis (CF), a common lethal genetic disease, is usually diagnosed in childhood. This study details an unusual family diagnosed with CF in adulthood, highlighting diagnostic challenges and genetic heterogeneity.
Area of Science:
- Medical Genetics
- Pulmonology
- Genetic Epidemiology
Background:
- Cystic fibrosis (CF) is the most common lethal autosomal recessive genetic disease in the US.
- Median survival for US CF patients is 21 years, with most diagnosed before age 5.
- A significant minority (10%) are diagnosed after age 12, indicating delayed diagnosis is possible.
Abstract:
Cystic fibrosis (CF), which is transmitted as an autosomal recessive trait, is the most common lethal genetic disease in the United States. Median survival age for patients followed up at CF centers in the US is now 21 years. While the disease is diagnosed in most patients before the age of 5 years, in 10% of cases the diagnosis is not confirmed until after age 12. We report an unusual family in which the diagnosis of CF was first established in three siblings at the ages of 36, 40, and 44 years. We describe the clinical features of the patients, as well as issues relating to the diagnosis of CF in adults. This unusual pedigree supports the concept of genetic heterogeneity in CF.