Vijay Kumar7 months ago

Cystic Fibrosis

Cystic Fibrosis is an inherited autosomal recessive disease of adults and children. In which there is mutation of CFTR gene on chromosome 7 which results in thick viscous secretion, impaired mucus clearance in the lung, impaired pancreatic secretion and abnormal sweat. Clinical features include respiratory symptoms ( productive cough, chronic bronchitis and bronchiectasis, digital clubbing) , intestinal symptoms (meconium ileus), pancreatic insufficiency ( DM, fat soluble vitamins deficiency, steatorrhea). Diagnostic test include sweat test, CXR, DNA testing and nasal potential difference. Management promotes clearance of airway secretion, antibiotics, pancreatic enzymes replacement and fat soluble vitamins replacement.