Cystic fibrosis (CF)
PREFERRED PRACTICE PATTERNS
6C: Impaired Ventilation, Respiration/Gas Exchange, and Aerobic Capacity/Endurance Associated with Airway Clearance Dysfunction1
6F: Impaired Ventilation and Respiration/Gas Exchange Associated with Respiratory Failure2
A 14-year-old male presents with CF diagnosed via sweat chloride test at 1-month old. He is complaining of increased sputum production and decreased activity/exercise tolerance with difficulty in walking the necessary distances around school without having shortness of breath. Therefore, he has recently been placed on homebound schooling. He likes school and misses being with his friends. When he is not having an exacerbation, he reports increased coughing with moderately intense activity/exercise and that he participates in a walking program 3×/wk for 20 minutes. He performs airway clearance using vest treatment (high-frequency chest wall oscillation) 2 times/day for 30 minutes at variable frequency. He has an acapella PEP device but does not use it much. He does nebulizer treatments with Pulmozyme and bronchodilators 2 times/day. He has had progressively increasing frequency of hospitalizations over the past 2 years for CF exacerbation and pneumonia. His past medical history includes: positive cultures for pseudomonas and burkholderia cepacia, as well as g-tube placement. Pulmonary function testing shows an FEV1 of 85%. Physical examination reveals moderate clubbing of his nail beds, flattened thoracic spine with elevated and forward rounded shoulders. He is thin. He is able to complete a 6-minute walk test for a distance of 1800 ft, with O2 saturation, 90% (96% at rest), increased HR from 100 at rest to 120, and report of dyspnea on the modified Borg scale, 3, perceived rating of exertion on the modified Borg scale, 2.
Schema describing classes of genetic mutations in CFTR gene and effects on CFTR protein/function. Note the F508 mutation is a class II mutation and, like class I mutations, would be predicted to produce no mature CFTR protein in the apical membrane. CFTR, cystic fibrosis transmembrane conductance regulator. (From Longo DL, Fauci AS, Kasper DL, Hauser SL, Jameson JL, Loscalzo J. Harrison’s Principles of Internal Medicine. 18th ed. New York, NY: McGraw-Hill; 2012.)
Cystic fibrosis with bronchiectasis, apical disease. (From Longo DL, Fauci AS, Kasper DL, Hauser SL, Jameson JL, Loscalzo J. Harrison’s Principles of Internal Medicine. 18th ed. New York, NY: McGraw-Hill; 2012.)