Other terms
- Cytokine Release Syndrome (CRS)
- Dandruff
- Data and Safety Monitoring Board (DSMB)
- Data and Safety Monitoring Plan (DSMP)
- Data Management
- Data Management Plan (DMP)
- Deep Vein Thrombosis (DVT)
- Dermabrasion
- Dermal Fillers
- Dermatitis
- Dermatofibroma
- Dermatologist
Cystic Fibrosis
What is Cystic Fibrosis (CF)? Cystic fibrosis (CF) is an autosomal recessive genetic disorder that affects multiple systems in the body, primarily the lungs, pancreas, and sweat glands.
It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, leading to impaired chloride and water transport across cell membranes, resulting in thick, sticky mucus in various organs.
CF is most commonly seen in Caucasians, with an estimated incidence of 1 in 2,500 to 3,500 live births worldwide, predominantly caused by the delta F508 mutation in the CFTR gene. While CF is less common in other ethnic groups, there have been discoveries of additional mutations in people of other ethnicities.
The median survival age of CF patients has increased significantly in recent years because of improvements in the care and management of cystic fibrosis, increasing the prevalence of the disease in adulthood.
Signs and Symptoms of Cystic Fibrosis
Cystic Fibrosis affects various organs, and symptoms may vary depending on the severity of the disease and the age of onset.
Common signs and symptoms of CF include:
- Chronic cough
- Wheezing
- Frequent respiratory infections
- Malabsorption and malnutrition
- Pancreatic insufficiency and diabetes.
- Dehydration and electrolyte imbalances from excessive salt loss.
- Infertility
- Clubbing of the fingers and toes.
Source: Shteinberg, M., Haq, I. J., Polineni, D., & Davies, J. C. (2021). Cystic fibrosis. The Lancet, 397(10290), 2195–2211. https://doi.org/10.1016/s0140-6736(20)32542-3
