II. Epidemiology
- Usually diagnosed in childhood
-
Incidence in live births
- Caucasian: 1:1500 to 1:2000
- Black: 1:17000
- Asian: 1:90000
- Carrier rate: 4-5% of Caucasian population
III. Pathophysiology
- Autosomal Recessive trait
- Exocrine gland disorder produces mucus blockage
- Blocks fine tubules in various organs
IV. Symptoms
- Respiratory
- Chronic Cough
- Productive of tenacious Sputum
- Wheezing
- Hemoptysis
- Dyspnea
- Chronic Cough
- Gastrointestinal
- Voracious appetite
- Chronic Diarrhea
- Bulky malodorous stools
- Prolonged Neonatal Jaundice
- Unintentional Weight Loss
- Other
- Excessive sweating
- Positive Family History
V. Signs
VI. Complications
- Respiratory
- Recurrent Pneumonia
- Chronic Bronchitis
- Recurrent Sinusitis and pansinusitis
- Nasal Polyps
- Bronchiectasis
- Pseudomonas colonization of respiratory tract
- Pneumothorax
- Respiratory Failure
- Gastrointestinal
- Other
- Cardiomegaly
- Diabetes Mellitus
- Metabolic abnormalities
- Hyponatremic Dehydration
- Chronic Metabolic Alkalosis
- Infertility in males (azoospermia)
VII. Labs
- Sweat Test
- Delta F508
- Agar Plate hand test
- White palmar implant from Sweat Chloride
- Starch tolerance test
- Pancreatic Insufficiency
-
Electrolytes
- Sodium and chloride normal
VIII. Imaging
-
Chest XRay
- Peribronchial cuffing
- Tram lines (Bronchial shadow lines)
- Fibrosis
- Recurrent infiltrates
- Pulmonary Blebs and bullae
- Abdominal XRay (KUB)
- Dilated loops of Small Bowel
IX. Management: CF Transmembrane Conductance Regulator (CFTR) Modulators
- Mechanism
- CF disease modifying agents
- Partially returns function of chloride channels, resulting in less mucus accumulation
- Preparations
- Trikafta (elexacaftor/tezacaftor/ivacaftor)
- Released in 2020, targets gene mutation found in 90% of CF patients (contrast with 50% for other agents)
- Kalydeco
- Orkambi
- Symdeko
- Trikafta (elexacaftor/tezacaftor/ivacaftor)
- Dosing
- To maximize absorption, take with fat containing food such as peanut butter or avocado
- Also take with Pancreatic Enzymes (if already taking)
- Adverse Effects
- Expensive ($300,000 per year)
- Liver Function Test Abnormalities
- Drug Interactions
- References
- (2020) presc lett 27(2):11
X. Management: Airway management
- Airway clearance
- Percussion and postural drainage
- Active cycle breathing
- Positive expiratory pressure mask
- Autogenic drainage
- Flutter valve
- Pneumatic vest
- Mucus thinning drugs
- Pulmozyme 2.5 mg nebulized qd
- Efficacy maintained for up to 1 year of treatment
- Reduces rate of respiratory infection
- Improves pulmonary function
- Antibiotics: Nebulized Tobramycin
- Traditional Tobramycin
- Dose: 80 mg/2cc nebulized TID
- TOBI
- Dose: 300 mg/5cc nebulized bid via Pari LC Plus
- Cost: $2000/28 day supply
- Traditional Tobramycin
- Antibiotics: Pneumonia
- Under age 10 years: Multiple organisms
- Age 10 and older: Pseudomonas predominates
XI. Management: Nutritional Supplements
- Daytime
- Scandibar 350 cals/bar
- Scandishake 600 cals/8 oz (with WCM)
- Calories Plus 450 cals/8 oz (with water)
- Carnation Instant Breakfast 290 Cals/8 oz
- Nighttime drip
- Tolerex 1.0 cal/cc
- Vital 1.0 cal/cc
- Peptamen 1.0 cal/cc
- Criticare 1.0 cal/cc
XII. Management: Other
-
Growth Hormone
- Improved Growth Velocity improves pulmonary function
- Results in reduced hospitalization rates
- Hardin (2006) J Clin Endocrinol Metab 91:4925-9 [PubMed]
- Lung Transplantation
-
Advanced Directives
- Discuss end of life issues as part of routine Health Maintenance
XIII. Management: Hospitalization Indications
XIV. References
- Fuchs and Yamamoto (2011) APLS, Jones and Bartlett, Burlington, p.76-9
- Acherman (1998) PREP Course, Phoenix
- Wallace (1993) Clin Pharm 12:657-74 [PubMed]