Cystic fibrosis, a hereditary disease that primarily affects the lungs and digestive system, is a life-threatening condition that requires attention. This genetic disease is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Symptoms include persistent coughing, frequent lung infections, wheezing, and difficulty breathing. While there is no cure for cystic fibrosis, management options such as medications, therapies, and diet can help.
Cystic fibrosis affects various organs in the body, including the lungs, pancreas, liver, sweat glands, and intestines. The malfunction of the CFTR protein in these organs leads to the production of thick and sticky mucus, which can cause blockages and infections.
The disease is most prevalent in Caucasians and is inherited as an autosomal recessive disorder. Diagnosis involves tests such as the Immunoreactive Trypsinogen (IRT) Test, DNA analysis, genetic testing, sweat test, and prenatal tests like Chorionic Villus Sampling (CVS) or Amniocentesis.
Treatment options for cystic fibrosis aim to manage symptoms and improve quality of life. These include medications, chest physiotherapy, nutritional support, and pancreatic enzyme replacement therapy (PERT). Following a high-calorie diet rich in healthy fats and taking prescribed medications can help in managing the condition. While there is no cure, early diagnosis and effective management can extend life expectancy for individuals with cystic fibrosis.