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14 Cards in this Set
- Front
- Back
- 3rd side (hint)
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What is the incidence of CF in caucations? What is the carrier rate?
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Incidence: 1 in 2500 births
Carrier rate: 1/25 |
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What is the genetics of cystic fibrosis/
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- Autosomal recessive
- Carrier rate of 1/25 - Gene located on chromosome 7 - Gene codes for protein CFTR (cystic fibrosis transmembrane regulator) - CFTR is a cyclic AMP-dependent chlorie channel blocker - Most common mutation ΔF508 |
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Most common mutation in CF
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ΔF508
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Which gene is effected in CF? Which Chromosome
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CFTR (cystic fibrosis transmembrane regulator)
Chromosome 7 |
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What is the pathophysiology of CF?
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There is abnormal ion transport across epithelial cells of exocrine glands in the respiratory tract and pancrease.
In the airways this abnormal ion transport leads to a reduction in airway surface liquid layer & consequence impairment of ciliary function & retension of mucopurulent secretions ↓ Cl- excreted into airway lumen, ↑ Na+ absorption, water follows = ↑ viscosity of secretions. Pancreatics ducts become blocked by thick secretion leading to pancreatic enzyme deficiency & malabsorption |
CFTR also affects inflammatory processes and defence
against infection. |
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If this patient (CF) was to present as a neonate, how may they present?
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- Meconium ileus (10%): Thickened meconium causing IO with vomiting, abdo distension & failure to pass meconium in the 1st few days of life
- Prolonged neonatal jaundice - Failure to thrive |
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Name me common clinical features (clinical presentation) of CF
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Infancy
- Failure to thrive - Recurrent chest infections - Malabsorption & steatorrhoea Young children - Bronchiectasis - Nasal polyps - Rectal prolapse - Sinusitis Older children/adults - Diabetes Mellitus - Male infertility (absence vas deferens) - Cirrhosis & portal hypertension - Pneumothorax/ recurrent haemopysis - Distal intestinal obstruction - Allergic bronchppulmonary Aspergillosis (ABPA) |
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Which organism are initally and subsequently common in CF?
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Initially: Staph aureus, haemophilus influenzae
Subsequently: Psudomonas aeruginosa, Burkholderia cepacia |
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What is significant with Burkholderia cepacia infection in CF?
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It markedly decreases lung function
Spread from person to person so CF pts are advised not to socialise with other CF pts |
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How is CF screened in the Guthrie Test?
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Immunoreactive trypsin (IRT) is increased in CF patients
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How is CF diagnosed?
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- Guthrie test
- Sweat test (increased conc on Cl- & NA+ in sweat) |
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What would a typical Chest X-ray of CF patient show? (not having an acute exacerbation)
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- Hyperexpansion
- Peibronchial shadowing - Bronchial wall thickening - Ring shadows |
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How is CF managed?
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MULTIDISCIPLINARY APPROACH
Respiratory management - Physiotherapy - Continous prophylactic oral antibiotics (usually flucloxacillin) - Rapid IV antibiotics therapy of acute exacerbations (usually 14 days to avoid lung damage) - Nebulised antibiotics if Pseudomonas infection - Regular, nebulised hypertonic saline (decrease the number of respiratory exacerbations) Nutritional - Oral enteric-coated pancreatic replacement therapy taken with all meals (for pancreatic insufficency) - High-calorie diet (150% of normal) - Fat-soluble vitamin supplements |
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What is the life expectance of current newborns with CF?
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40s
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