Child Respiratory Diseases Flashcards
What is the prevalence of cystic fibrosis?
1/2415- life expectancy is inc
what are the 6 classes of CF?
- Protein synthesis defect (no CFTR)
- Folding defect (protein doesn’t reach apical membrane)
- Gating defect
- Conductance impairment
- splicing defect
- reduced stability
what specific mutation is an example of a folding defect?
F508del
True/False:
G551D is an example of a splicing defect?
False:
example of a gating defect
What is CF?
defect to the CFTR gene resulting in inc mucus secretion causing difficulty breathing
What chromosome is mutated in the CFTR gene?
chromosome 7
What is the CFTR protein?
chloride ion channel
True/False:
F508del mutation is the most common in CF patients?
True
What does the CFTR mutation cause?
reduced Cl- secretion so inc Na+ & H2O reabsorption making secretions thick= mucus stasis = recurrent infection = bronchiectasis
What are symptoms of CF?
salty sweat, failure to thrive, chronic cough and sputum production, dyspnoea, nasal polyps, haemoptysis, pneumothorax, DIOS
How do CF patients usually present?
recurrent chest infections, upper lobe bronchitis, infertile, low weight, osteoporosis
What are the Ix for CF…
neonatal heel prick test, CFTR functional testing, HRCT, sweat test
What are worrying results for a sweat test?
Na & Cl >60mM
What are detection measures for CF?
family screening, genetic testing, bronchiectasis service
What is the tx for CF…
airway clearance, nebulized therapy (rhDNase), anti-inflammatory treatment
How do u treat exacerbations of CF..
IV antibis (flucloxacillin), physio, dietary input
How to treat advance CF…
O2, lung transplant, diuretics, NIV (non-invasive mechanical ventilation)
what are CF complications?
pancreatic insufficiency, diabetes, liver disease, male infertility
What is the median survival for CF patients now?
36 years
What is stridor?
Inspiratory wheeze due to large airway obstruction
what are the large airways?
larynx, trachea, bronchi
what are the causes of stridor?
child: infections, anaphylaxis, foreign bodies
adults: tumours, anaphylaxis, foreign bodies, trauma, tracheomalacia
What is tracheomalacia?
destruction of cartilage in airways
True/False:
anaphylaxis is type 2 hypersensitivity?
False
Type 1
