Cystic Fibrosis and pulmonary hypertension Flashcards Preview

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Flashcards in Cystic Fibrosis and pulmonary hypertension Deck (19)
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What type of genetic mutation in cystic fibrosis

- Autsomal recessive condition


What is cystic firbosis casued by

- caused by mutations in the CF transmembrane conductance regulator gene (CFTR) on chromsome 7


What does the CFTR gene do

- This is a chloride channel and the defect leads to a combination of defective chloride secretion and increase sodium asborption across airway epithelium
- this prediposes people to chronic pulmonary infections and bronchiectasis


What are the clinical features of the neonate in cystic fibrosis

- failure to thive
- meconium ileus
- rectal prolapse


What are the features of children and young adults in cystic fibrosis

- cough
- wheeze
- recurrent infections
- bronchiectasis
- pneumothorax
- haemoptysis
- resp failure
- cor pulmonale

- pancretic insufficency
- distal intestinal obstruction
- gallstones
- cirrhosis

- male infertility
- osteoporosis
- arthritis
- vasculitis
- nasal sinsitus


How do you diagnose cystic fibrosis

Sweat test
- sweat sodium and chloirde is greater than 60mmol/L
- chloride is usually greater than sodium

Faecal elastase - simple and useful screening test to work out exocrine pancreatic dysfunction


what effect does cystic fibrosis have on organs

- fatty liver
- cirrhosis
- chronic pancreatitis
- hyperinflation of the lung


How do you manage cystic fibrosis

- Chest physiotherapy = airway clearance techniques and postural drainage
- Antibitoics are given for acute infective exacerbations and prophylactically
- Mucolytics may be useful such as DNASE
- pancreatic enzyme replacement
- fat soluble vitamin supplements
- ursodeoxycholic acid for impaired liver function
- cirrhosis may require liver transplantation
- malabsorption


What is the avergae life span for someone with CF

41 years old


What is the definition of pulmonary hypertension

- defined as having an mPAP of greater than 25mmHg at rest as measured on right heart catheterization


What are the common causes of pulmonary hypertension

- idiopathic
- heritable
- drugs
- congenital heart disease
- connective tissue disease
- left heart disease


What are the 5 main groups of pulmonary hypertension

- Group 1: Pulmonary arterial hypertension (PAH)
- Group 2: Pulmonary hypertension caused by left heart disease
- Group 3: Pulmonary hypertension caused by lung conditions or lack of oxygen
- Group 4: Pulmonary hypertension caused by blood clots (chronic thromboembolic pulmonary hypertension, CTEPH)
- Group 5: Pulmonary hypertension caused by a range of causes


What investigations are used to confirm the diagnosis of pulmonary hypertension

- routine blood tests
- chest X ray
- echo
- abdominal liver ultrasound
- right heart catheterisation


What would a chest x ray show in pulmonary hypertension

- enlargement of the pulmonary arteries and major branches
- right atrial and right ventricle enlargement


What does an ECG show in pulmonary hypertension

- right ventricular hypertrophy
- right atrial enlargement (P pulmonale)


Why would you do an abdominal liver ultrasound to look for pulmonary hypertension

- to make sure liver cirrhosis and portal hypertension is not the cause


What is the management for pulmonary hypertension

- remain physically active
- pregnancy - avoid pregnancy as it has a high mortality rat e
- travel - supplementary oxygen may be appropriate
- vaccinationn
- oral anticoagulation
- diuretics
- calcium channel blockers
- prostanoids
- endothelium receptor antagonists
- phosphodiesterase type 5 inhibitors


When do you refer a patient for pulmonary hypertension for specialist management

- pulmonary arterial hypertension
- PH due to chronic heart and lung disease
- PH due to chronic thromboembolic disease
- PH due to miscellaneous causes.
- PH due to uncertain causes


What is the difference between pulmonary and systemic pressures

- Pulmonary - tends to be around 8-25 mmHg
- Systemic - tends to be around 80-100mmHg