Cystic Fibrosis and Bronchiectasis

Cystic Fibrosis

an autosomal recessive genetic disorder affecting the respiratory, digestive, and reproductive systems

CFTR, common, Caucasians, genetic, chloride, mucus, damage

Introduction to Cystic Fibrosis

-Cause: mutation in the ____ gene

-Incidence: most ________ life-threatening genetic disease in Caucasians

-Carrier frequency: 1 in 25 __________ carry a CFTR mutation

-Risk factors: family history, _______ predisposition

-Primary Issue: dysfunctional _______ transport → thick _____ production → multi-organ _________

chloride, epithelial, mucus, infections, pancreatic, infertility

Cystic Fibrosis Pathophysiology

-CFTR gene mutation leads to: defective _______ and water transport across _________ membranes. It also leads to thick, sticky ______ accumulation in lungs, pancreas, and other organs

-Affected systems include: respiratory, gastrointestinal, and reproductive.

-Respiratory: mucus obstruction, chronic _________, and bronchiectasis

-Gastrointestinal: ___________ insufficiency, malabsorption, meconium ileus

-Reproductive: ________ in males due to congenital bilateral absence of the vas deferens

cough, infections, polyps, vitamin, liver, imbalances, thrive

Cystic Fibrosis Clinical Presentation

-Pulmonary Symptoms: chronic ______ with thick mucus, recurrent respiratory ___________, digital clubbing, nasal _______, and sinusitis

-GI Symptoms: failure to thrive, steatorrhea, _______ deficiencies, pancreatitis, _____ disease

-Other: electrolyte __________ and infertility in males

-Neonates: meconium ileus, failure to _______

trypsinogen, chloride, pilocarpine, CFTR, obstructive, FEV1, lipase

Cystic Fibrosis Diagnosis

-Newborn screening: immunoreactive ____________ (IRT) test

-Sweat chloride test: gold standard (>60 mmol/L _______ on two occasions after __________ administration confirms diagnosis)

-Genetic testing: ____ mutation analysis

-Pulmonary function tests (PFTs): shows ____________ pattern with reduced ____, irreversible

-CXR: bronchiectasis, hyperinflation of lungs

-Other labs: hyponatremia, metabolic alkalosis, elevated _______ (pancreatitis)

physiotherapy, saline, mucolytic, chronic, tobramycin, infections, CFTR, transplant

Cystic Fibrosis Treatment and Management: Pulmonary

-Airway clearance therapies: chest _______________, oscillatory devices, hypertonic ________, dornase alfa (_________), and bronchodilators

-Antibiotic therapy: _______ suppressive therapy (Azithromycin), inhaled ___________ for Pseudomonas colonization, and antibiotics for acute pulmonary ____________

-____ modulators: Ivacaftor, lumacaftor/ivacaftor, tezacaftor, elexacaftor

-Lung and/or liver _______: considered in end-stage disease

pancreatic, vitamin, diabetes

Cystic Fibrosis Treatment and Management: Nutrition and GI

-___________ enzyme replacement therapy (PERT)

-Fat-soluble ________ supplementation (A, D, E, K)

-High-calorie, high-protein diet

-Treatment of CF-related __________ (CFRD) if present

failure, infections, obstruction, improving

Cystic Fibrosis Complications

-Respiratory complications: chronic respiratory _________, bronchiectasis, and increased risk of respiratory ___________.

-Gastrointestinal complications: liver disease, intestinal _____________

-Prognosis: median survival ___________ with advanced therapies. Early diagnosis and multidisciplinary care improve outcomes

genetic, sweat, CFTR, essential

Cystic Fibrosis Pearls

-Cystic fibrosis is a _________ disorder affecting multiple organ systems

-______ chloride test is the gold standard for diagnosis

-Pulmonary and gastrointestinal management are key to improving outcomes

-____ modulators have revolutionized treatment

-Multidisciplinary care is ___________ for long-term survival

permanent, bronchi, mucus, damage

Intro to Bronchiectasis

-Bronchiectasis is a chronic lung disease characterized by __________ and irreversible dilation of ______ due to recurrent infections and inflammation

-Key features: ______ accumulation, recurrent infections, and airway ______

imaging, fibrosis, ciliary, autoimmune, inflammation

Bronchiectasis Epidemiology

-Prevalence: increasing due to better __________ and recognition

-Risk Factors: cystic _________ (CF-related vs non-CF bronchiectasis), recurrent respiratory infections, primary _________ dyskinesia, immune deficiencies, _____________ diseases, and aspiration or chronic pulmonary _____________

injury, mucus, damage, dilation

Bronchiectasis Pathophysiology

Cycle of Infection & Inflammation:

1. Airway ________ due to infection or inflammation

2. Mucociliary clearance dysfunction → ______ accumulation

3. Recurrent infections lead to further bronchial _______

4. Airway ________ and remodeling

productive, purulent, infections, damage, clubbing, wheezing

Bronchiectasis Clinical Presentation

-Chronic ____________ cough with large amounts of _________ sputum (thick, dark brown)

-Recurrent respiratory __________ (Pseudomonas, Haemophilus, Staph Aureus)

-Dyspnea, wheezing, and fatigue

-Hemoptysis (due to airway ________, bronchial artery erosion)

-___________ of fingers (in advanced cases)

-Physical Exam: + crackles, _____________, and rhonchi

abnormal, opacities, HRCT, diagnosis, dilation, obstructive, bacterial, underlying

Bronchiectasis Diagnosis

-CXR: _________, but non-specific with linear atelectasis, tram-track appearance, __________, and increased bronchial markings

-High-resolution CT (____) scan: gold standard for __________. Shows bronchial ________, thickened airway walls, and lack of tapering

-PFTs: often show __________ pattern, decreased FEV1/ratio/FVC

-Sputum cultures: identify ____________ colonization (e.g., Pseudomonas)

-Bronchoscopy: used in select cases to rule out obstruction or malignancy

-Workup for __________ conditions: immunoglobulin levels, CFTR genetic testing, and ciliary function testing

clearance, oscillatory, saline

Bronchiectasis Treatment: Airway ___________ Therapy

-Chest physiotherapy (percussion, postural drainage)

-High-frequency ___________ devices (e.g., vest therapy)

-Hypertonic ________ nebulization (mucolytics)

-Dornase alfa (for CF-related bronchiectasis)

empiric, Fluoroquinolone, aminoglycosides

Bronchiectasis Treatment: Antibiotic Therapy

-Acute exacerbations: ________ coverage based on sputum culture, no culture results start with _______________

-Chronic suppressive therapy: inhaled _______________ (tobramycin for Pseudomonas)

SABAs, corticosteroids

Bronchiectasis Treatment: Bronchodilators and Anti-Inflammatory Therapy

-_______ or LABAs

-Inhaled ______________ (for airway inflammation)

surgical, transplant, immunoglobulin, hemoptysis

Bronchiectasis Treatment: Surgical and Advanced Therapies

-__________ resection: considered in localized disease unresponsive to medical therapy

-Lung __________: for severe, end-stage disease

-Treatment of underlying conditions: _________________ replacement for immune deficiency

-Bronchial artery embolization for ___________

exacerbations, hemoptysis, infections

Bronchiectasis Complications

-Frequent _____________ and respiratory decline

-Massive __________ (due to bronchial artery hypertrophy)

-Pulmonary hypertension and right heart failure (cor pulmonale)

-Secondary ___________ (e.g., Nontuberculous Mycobacteria- NTM)

permanent, HRCT, clearance, underlying

Bronchiectasis Pearls

-Bronchiectasis is a chronic lung disease with _____________ airway dilation

-____ is the gold standard for diagnosis

-Treatment focuses on airway __________, infection control, and inflammation management

-Recognizing and treating __________ causes is crucial

infections, fibrosis, obstruction

Three Hallmark Symptoms of Bronchiectasis

1. Recurrent respiratory ________

2. Peribronchial ________

3. Airway ___________

Tram-Track

sign on chest imaging indicative of bronchiectasis, characterized by parallel lines representing thickened bronchial walls.