Cystic fibrosis
- autosomal recessive genetic disorder (need 2 copies of gene)
- mutation of CFTR gene (codes for epithelial cell membrane chloride channel)
- if 2 different gene mutation, the one with lesser effect is dominant
Diagnosis:
- heel prick test (for newborns)
measure immunoreactive trysinogen (damage due to mucus blockage in pancreas)
- genetic mutation analysis
5 days for result
- sweat test
measure concentration of chloride in sweat (higher if positive)
Pulmonary effects
Mostly Staphlococci/ H.influenzae
Pathophysiology:
- defective ion transport
airway surface liquid depleted
impaired mucociliary clearance
airway clogged with thick sticky mucus
colonisation of bacteria as it can’t be cleared out
infection causes inflammatory response
accumulation of neutrophil
neutrophil release proteases that damages airway tissues
Monitoring:
- respiratory symptom
- sputum culture
- lung function (spirometry, oxygen saturation)
Staphylococcus aureus infection
- usually initial infecting pathogen
- given continuous prophylaxis in early childhood – up to 6yr old (oral flucloxacillin)
- give flucloxacillin orally in minor exacerbation
- give flucloxacillin / vancomycin IV in severe exacerbation
MRSA infection
- swab patient and family
- if positive but not symptom give mupirocin for nasal cavity
- if symptomatic drug given is based on sensitivity
fusidic acid + rifampicin/trimethoprim
oral linezolid
severe: Teicoplanin / vancomycin IV
- autosomal recessive genetic disorder (need 2 copies of gene)
- mutation of CFTR gene (codes for epithelial cell membrane chloride channel)
- if 2 different gene mutation, the one with lesser effect is dominant
Diagnosis:
- heel prick test (for newborns)
measure immunoreactive trysinogen (damage due to mucus blockage in pancreas)
- genetic mutation analysis
5 days for result
- sweat test
measure concentration of chloride in sweat (higher if positive)
Pulmonary effects
Mostly Staphlococci/ H.influenzae
Pathophysiology:
- defective ion transport
airway surface liquid depleted
impaired mucociliary clearance
airway clogged with thick sticky mucus
colonisation of bacteria as it can’t be cleared out
infection causes inflammatory response
accumulation of neutrophil
neutrophil release proteases that damages airway tissues
Monitoring:
- respiratory symptom
- sputum culture
- lung function (spirometry, oxygen saturation)
Staphylococcus aureus infection
- usually initial infecting pathogen
- given continuous prophylaxis in early childhood – up to 6yr old (oral flucloxacillin)
- give flucloxacillin orally in minor exacerbation
- give flucloxacillin / vancomycin IV in severe exacerbation
MRSA infection
- swab patient and family
- if positive but not symptom give mupirocin for nasal cavity
- if symptomatic drug given is based on sensitivity
fusidic acid + rifampicin/trimethoprim
oral linezolid
severe: Teicoplanin / vancomycin IV
