Cystic fibrosis is a genetic disorder that affects the lungs and digestive system. It is spelled /ˈsɪstɪk faɪˈbroʊsɪs/, with the stress on the first syllable. The initial "c" is pronounced as /s/, followed by a short /i/ sound. "St" is pronounced as /st/, followed by a short /ɪ/ sound. "Cytic" is pronounced as /sɪstɪk/, with the "y" pronounced as a short /ɪ/. "Fibrosis" is pronounced as /faɪˈbroʊsɪs/, with the stress on the second syllable and "fi" pronounced as /faɪ/.
Cystic fibrosis (CF) is a genetic disorder characterized by the secretion of abnormally thick and sticky mucus in the lungs, digestive system, and various other organs of the body. It is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which normally regulates the flow of salt and fluids in and out of cells. This mutation leads to the production of a defective CFTR protein, resulting in the buildup of thick mucus that clogs the airways and obstructs the function of various organs.
Symptoms of cystic fibrosis can vary in severity and may include persistent coughing with phlegm, frequent lung infections, difficulty breathing, poor growth and weight gain, salty-tasting skin, digestive problems, and infertility in males. CF can also affect other systems of the body, such as the reproductive, digestive, and endocrine systems.
There is currently no cure for cystic fibrosis, but various treatments and therapies aim to manage the symptoms and improve quality of life. These may include medications to thin the mucus, antibiotics to prevent and treat infections, exercise and physical therapy to help loosen mucus and improve lung function, nutritional support, and lung transplants in severe cases.
The life expectancy and overall prognosis for individuals with cystic fibrosis have significantly improved over the years due to advancements in medical care and treatments. With early diagnosis, comprehensive care, and ongoing management, many individuals with CF are now able to live full and productive lives well into adulthood.
The word "cystic fibrosis" originates from the combination of two parts: "cystic" and "fibrosis".
The term "cystic" is derived from the Greek word "kystis", which means "bladder" or "sac". In medical terminology, it commonly refers to a sac-like structure filled with fluid or semi-solid material. In the case of cystic fibrosis, it alludes to the formation of cysts in various organs due to the disease.
The term "fibrosis" is derived from the Latin word "fibra", meaning "fiber". In medical context, it refers to the thickening or scarring of connective tissue, usually as a result of inflammation or injury. In cystic fibrosis, fibrosis occurs in the lungs, pancreas, and other affected organs, leading to the impairment of their normal functions.