Cystic Fibrosis in Paediatric Nursing: CFTR Genetics, Pathophysiology, Diagnosis and Treatment
A paediatric and child health nursing deck on cystic fibrosis: the autosomal recessive inheritance on chromosome 7, the CFTR gene and its known mutations, the prevalence by ethnic group, and the epithelial dysfunction the defective protein causes. Pathophysiology covers the lung, the biliary tree and the bowel, then the clinical picture from chronic sinusitis and meconium ileus to exocrine pancreatic insufficiency and failure to thrive. Diagnosis is given with its criteria, and treatment with chest physiotherapy, the two-drug antibiotic approach to Pseudomonas, enzyme replacement and fat-soluble vitamins, and the management of atelectasis, respiratory failure and cor pulmonale.
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