Medicine Notes- Clinical Examination - Cystic Fibrosis
Cystic fibrosis
Cystic fibrosis occur as a result of mutation in the chromosome number 7 which lead to mutation to the CFTR gene. Cystic fibrosis is an autosomal recessive disorder.
Patient who suffer from cystic fibrosis may appear thin, short and with indwelling catheter. Patient may present with signs of fingers clubbing. Patient will appear cyanotic in nature. On auscultation, the patient may present with coarse inspiratory crackles over the the area of bronchiectasis.
Cystic fibrosis may present with other symptoms and signs such as infertility, pancreatic insufficiency, diarrhea and failure to thrive.
Multidisciplinary team’s approach is required.Cystic fibrosis may require treatment which includes antibiotics, physiotherapy, immunization and pancreatic enzyme replacement. The final stage of treatment include lung transplant. Sodium sweat test is useful in identifying cystic fibrosis. High sodium sweat test is an indication of cystic fibrosis.
Cystic fibrosis occur as a result of mutation in the chromosome number 7 which lead to mutation to the CFTR gene. Cystic fibrosis is an autosomal recessive disorder.
Patient who suffer from cystic fibrosis may appear thin, short and with indwelling catheter. Patient may present with signs of fingers clubbing. Patient will appear cyanotic in nature. On auscultation, the patient may present with coarse inspiratory crackles over the the area of bronchiectasis.
Cystic fibrosis may present with other symptoms and signs such as infertility, pancreatic insufficiency, diarrhea and failure to thrive.
Multidisciplinary team’s approach is required.Cystic fibrosis may require treatment which includes antibiotics, physiotherapy, immunization and pancreatic enzyme replacement. The final stage of treatment include lung transplant. Sodium sweat test is useful in identifying cystic fibrosis. High sodium sweat test is an indication of cystic fibrosis.
