Pharmacological Treatment of Cystic Fibrosis
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Cystic fibrosis is an autosomal recessive disorder caused by a mutation in the CFTR gene (cystic fibrosis transmembrane conductance regulator gene). CFTR protein is a transcellular pump that pumps chloride Ione into various secretions in the body. In early childhood, pancreatic insufficiency is the most common defect in CF patients; this happens because thick secretions jam up the pancreatic duct, not allowing pancreatic enzymes to make it to the small intestine. Later in childhood, lung problems can start, and thickening of the mucus can cause defective mucociliary action, this will lead to an increase in the bacterial load in the pulmonary system causing symptoms of coughing and fever. There is no cure for cystic fibrosis, so treatment targets the symptoms, the aim here is to reduce complications and to improve quality of life. Medications options include medications that target gene mutations including a combination of three drugs Elexacaftor/Tezacaftor/Ivacaftor which is considered a major achievement in the disease treatment, antibiotics to treat and prevent lung infections, anti-inflammatory medications to decrease airway swelling, mucus-thinning drugs which helps the patient to cough up the mucus leading to a significant improvement in the overall lung function, bronchodilators that maintain the airway opening by relaxing the smooth muscles in the wall of the bronchial tubes, replacement of pancreatic enzymes orally to help to digest and absorbing nutrients, stool softeners to prevent constipation or bowel obstruction, acid-reducing medications to improve the work of the pancreatic enzymes, and finally, specific drugs for diabetes and liver disease.