Cystic fibrosis (CF) is an autosomal recessive inherited multisystemic disease that occurs as a result of the dysfunction of Cystic Fibrosis Transmembrane conductance Regulator (CFTR) chloride channel of exocrine glands and disrupts the function of organs by affecting all exocrine epithelium. The absence of CFTR protein and/or disfunction in CF airway epithelium produces two defects in this process. First, the reduced permeability of CF epithelia to Cl- results in reduced Cl- secretion and hence less mass of salt on the apical surface. Secondly, ENaC activity is unchecked, resulting in an unregulated and inappropriate absorption of salt from ASL. Respiratory signs are the most common ones in all ages. More than 90% of CF patients die due to progressive lung disease and respiratory failure. Meconium ileus, chronic cough, recurrent lung infections, chronic oily diarrhea and an inability to gain weight, biliary cirrhosis, exocrine pancreatic insufficiency, obstructive azoospermia are other common symptoms of CF. CF can be diagnosed with at least 1 phenotypic characteristics and a sweat chloride concentration of >60 mmol/l. The main aims of treatment are age-appropriate physical and psychosocial development, especially with respect to pulmonary function and structure and the avoidance of organ complications espacially pulmonary infections. Cystic fibrosis effects so many organs and systems, has broad implications for both quality and quantity of life when poorly controlled. Therefore, treatment should focus on optimizing function to avoid acute illness events.
Anahtar Kelimeler: Cystic fibrosis, Respiratory infections, CFTR, Mukus, Growth restriction
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