Cystic fibrosis Flashcards
What causes cystic fibrosis
Autosomal recessive
Mutation in CFTR gene on chromsome 7 - chloride channel in epithelium
Pulmonary manifestations of cystic fibrosis
Chronic bronchitis
Bronchiectasis
Recurrent infections often pseudomonas aeruginosa
GI complications
Pancreatic insufficiency, malabsorption, liver disease
Male complications cystic fribrosis
Male infertility - bilateral congenital absence of vas deferens
Diagnostic tests for cystic fibrosis
Newborn creening
Sweat chloride test
Genetic analysis
Most common mutation causing CF
f508 deletion
Pathophysiology of CF
Impaired ion transport due to dysfunctional or absent CFTR protein -
Chloride and water retention inside cells, sodium ruch environment outside cells -> sodium and water reabsorption -> mucus dehydrated and thickend
What is the classic sign of cystic fibrosis in an infant
Meconium ielus thats symptomatuc - intestinal obstruction as a newborn
Clinical features in children with CF
Chronic cough
Recurrent wheezing
Chronic respiratory infections
Malabsorption in GI tract
FTT
Pancreatic insufficiency featires
Steatorrhea, weight loss, and malabsorption of fat-soluble vitamins d
What is DIOS
Distal intestinal obstruction syndrome due to insissated faecal material in CF
Endocrine manifestations in CF
CF related diabetes - insulin deficiency and impaired glucose tolerance from pancreatic damage
Growth failure
Female features CF
Thick cervical mucus, irregular menstrual cycles and decreased fertility
What can be dangerous if excessive sweating in CF
Salt loss syndrome - excess NaCl loss in sweat -> hyponatrmic dehydration and metabolic alkalosis esp in infants
What levels are diagnositc of CF from sweat chloride test
> 60 mmol/L
30-59 = further investigation
What need to monitor in CF
Sputum culture
Pulmonary function tests
CT chest and CXRs
Blood tests
DEXA scan - malabsorption vut D / calciumn
How can CF be diangosed crtieria
Child or young adult with no symptoms but positive test results eg blood spot immunoreactive trypsin test + sweat chlorude and gene test
Child or young adult with clinical features CF confirmed by NaCl sweat test or genetics
Child or young adult with solely clinical features of CF
Management of CF
AW clearance techniwues
Chest physiotherapy
Early start antibiotics for chest infections
Nutritional supplements
Regular monitoring
AW clearance technqieus
Chest physio - active breathing cycle, autogenic drainage, + espiratory pressure devuced
High frequency chest wall oscillation
Exercise
Medications in CF
Mucolytics - dornase afla, hypertonic saline
Bronchodilators eg B2 agonists and anticholinergics
Anti inflammatorues - inhaled corticosteroids and oral ibuprogen
Antibiotics - inhlaed
CFTR modulators - ivacaftor, ,lumacaftor - improve protein function and clinical outcomes
Nutrtional management CF
Pancreatic enzyme replacement therapy - PERT
Fat soluble vitamine supplements - A, D, E, K
High energy diet 0 high calorie, high fat diet
Options for respiratory failure in CF
Lung transplant
ENT and kidney complications of CF
Sinusitis and nasal polyps from chronic inflammation
Nephrolithiasis - dehydration, alkaline urine, hyperoxaluria increase kidney stones
What factors influence CF life expectancy
genotype, pancreatic status, pulmonary function, nutritional status, and the presence of complications such as cystic fibrosis-related diabetes (CFRD) and liver disease
Average 40 years life expectancy
