CYSTIC FIBROSIS Flashcards
essentials for Diagnosis:
- chronic obstructive pulmonary disease in childhood and early adulthood
- positive family history
- sweat chloride concentration > 80 mEq/L in adult on 2 occasions
- pancreatic insufficiency, especially in children
- chronic pseudomonas aeruginosa or staphylococcus aureus bronchitis and bronchiectasis with recurrent exacerbation
cystic fibrosis: definition and epidemiology
- > generalized autosomal recessive disorder of the exocrine glands
- > about on in 2500 caucasians is affected, and one in 25 is carrier of the cystic fibrosis gene
- mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene result in alterations un the chloride transport and water reflux across the apical surface of the epithelial cells.
CF: how are the exocrine glands affected?
-> almost all are affected by secretion of an abnormal mucus that obstructs glands and ducts in various organs.
- obstruction relus in dilation of the secretory glands and eventual damage to exocrine tissue.
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CF: how is the mucocilliary function?
-> in the respiratory tract, inadequate hydration of the tracheobronchial epithelium impairs mucocilliary function.
the sputum is thick and viscous
CF: pulmonary manifestations:
acute and chronic bronchitis
bronchiectasis
pneumonia
atelectasis
peribronchial and parenchymal scarring
pneumothorax and mild hemoptysis are common
cor pulmonale occurs in advanced cases and means poor prognosis
CF: most common disorder in? (race)
-> most common fatal hereditary disorder of caucasians in USA and is the most common cause of chronic lung disease in children and young adults.
CF: clinical findings
- > diagnosis should be suspected in young adults presenting with a history of chronic lung disease (especially bronchiectasis), pancreatitis or infertility;
- > cough, exercice intolerance and recurrent pneumonie are typical
- > Steatorrhhea is common
CF: physical examination:
- > digital clubbing, increased anteroposterior chest diameter, hyper resonance to percussion and basilar crackles
- > nasla polyps occur as many as 15% of patients with CF
- > nearly all men with cf have congenial bilateral absence of the vas deferens with azoospermia
- > patients with cf have an increased risk of malignancies of the gastrointestinal tract.
CF: laboratory findings: arterial blood gas studies; pulmonary function studies…
- > arterial blood gas studies: hypoxemia
- > pulmonary function studies: reduction in forced vital capacity, airflow rates and total lung capacity.
- > Air trapping and reduction in pulmonary diffusing capacity are common
CF: laboratory findings: what characterized advanced disease
-> a mixed obstructive and restrictive pattern of dysfunction.
CF: Imaging: what do you see in the early disease?
-> hyperinflation
CF: Imaging: what may be seen separately and in various combinations?
-peribronchial cuffing, mucus plugging, bronchiectasis, increased interstitial markings, small rounded peripheral opacities and focal atelectasis.
CF: special examinations: what does the sweat test reveals and in adults?
- > the pilocarpine iontophoresis “ sweat test “ reveals elevated sodium and chloride levels (>60 mEq/L) in the sweat of patients with CF
- > values higher than >80 mEq/L are diagnostic in adults
- > two separate tests on consecutive days are required
CF: TTT: what are the antibiotics used for? what common bacteria?
- > are used to treat active airway infections based on results of culture and susceptibility testing of sputum
- S aureus and variants of pseudomonas aerugingsa are commonly present
- Haemophilus influenza is occasionally isolated
TTT: use of aerosolized antibiotics for what? and is it useful?
- > for prophylaxis or ttt of lower respiratory tract infections
- > sometimes useful with pt with CF
- > some studies demonstrated reduced exacerbation in pt chronically affecter with P. aerugingsa.
