Respiratory Flashcards
WHat is alpha 1 antitrypsin deficiency?
Common inherited condition caused by a lack of protease inhibitor (Pi) normally produced in the liver
Where is alpha 1 antitripsyin located?
Chromosome 14
Inheritance of alpha 1 antitrypsin deficiency
Autosomal recessive / co dominant fashion
WHat does heterozygous PiMZ mean?
If non smoker low risk of developing emphysema but may pass on A1AT gene to children
What does homozygous PiSS mean?
50% normal A1AT levels
What does homozygous PiZZ mean?
10% normal A1AT levels
Patients who manifest A1AT disease usually have what phenotype?
PIZZ
How does A1AT deficiency manifest?
Paraacinar emphysema, marked in lower lobes
Liver cirrhosis and HCC in adults
Cholestasis in children
Investigations for ALAT defiency
A1AT concentrations
Spirometry
What does spirometry show in ALAT deficiency?
Obstructive picture
Treatment of ALAT1 deficiency
No smoking
Supportive; bronchodilators and physio
IV aplha1-antitrypsin protein concentrations
Lung volume reduction surgery
Lung transplantation
Management of high altitude cerebral oedema (HACE)
Descent
Dexamethasone
Presentation of acute mountain sickness
Headache
Fatigue
Nausea
Prevention and treatment of acute mountain sickness
Gain altitude more than 500 meters
Acetozolamide
Presentation of HAPE
Classic pulmonary oedema features
Presentation of HACE
Headache
Ataxia
Papilloedema
Management of HAPE
Descent
Nifedipine
Dexamethasone
Acetozolamide
Oxygen if available
Investigations of suspected COPD
Post bronchodilator spirometry to demonstrate airflow obstruction (FEV1/FVC ratio < 70%)
CXR
FBC; exclude secondary polycythaemia
BMI calculation
CXR findings to support COPD
Hyperinflation
Bullae
Flat hemidiaphragm
Stage 1 COPD FEV1
FEV > 80%
Stage 2 (mod) COPD FEV1
FEV 50-79%
Stage 3 (severe) COPD FEV1
FEV 30-49%
Stage 4 (very severe) COPD FEV1
FEV < 30%
What is idiopathic pulmonary fibrosis?
Chronic lung condition characterised by progressive fibrosis of the interstitium of the lungs
Presentation of IPF
Progressive exertional dyspnoea
Bibasal fine end inspiratory creps on auscultation
Dry cough
Clubbing
Diagnosis of IPF
Spirometry
Impaired gas exchange; reduced transfer factor (TLCO)
CXR
High resolution CT
Serology
What spirometry is seen in IPF?
Restrictive picture (FEV1 normal/decreased, FVC decreased, FEV1/FVC increased)
CXR findings in IPF
Bilateral interstitial shadowing (ground class later progressing to honeycombing)
Serology in IPF
ANA + in 30%
RF + in 10%
Treatment of IPF
Pulmonary rehab
Oxygen
Lung transplant
Life expectancy IPF
3-4 years
Post bronchodilator FEV1/FVC found in any severity COPD
< 0.7
What is bronchiectasis?
Permenant dilatation of airways secondary to chronic infection or inflammation