Pathology - Cystic Fibrosis
Cystic fibrosis is an autosomal recessive illness resulting from a mutation, most commonly the delta 508 mutation, on chromosome 7. This mutation leads to a malfunctioning membrane CI channel (CFTR), resulting in impaired chloride and water transportation in epithelial cells. Pathophysiology: A mutation in the CI channel results in the production of viscous mucus that accumulates in the lungs, liver, and pancreas. Lung: Mucus plugs blocking bronchioles due to an increase in the number and size of goblet cells. Liver: Biliary cirrhosis caused by the obstruction of bile canaliculi by mucus plugs. The pancreatic ducts are blocked by mucus plugs, leading to fibrosis of the exocrine gland. This condition is characterized by a persistent lung illness that leads to a productive cough, pulmonary infections, bronchiectasis, cyanosis, and a barrel-shaped chest. Additionally, it causes pancreatic insufficiency resulting in steatorrhea, diabetes, and malabsorption. Newborns with this condition may experience meconium ileus, which is a blockage in the small bowel. Lastly, men with this condition may also experience infertility. Laboratory results include elevated amounts of chloride ions in the sweat test, hypoxia, and an increased ratio of residual volume to total lung capacity (TLC). Treatment options for respiratory conditions include antibiotics, inhaled bronchodilators, airway secretion clearance procedures, and lung transplantation. The median age of survival is 31 years. Pulmonary problems lead to death.
0 Comments
Leave a Reply. |
Kembara XtraFacts about medicine and its subtopic such as anatomy, physiology, biochemistry, pharmacology, medicine, pediatrics, psychiatry, obstetrics and gynecology and surgery. Categories
All
|