Cystic Fibrosis and pulmonary hypertension Flashcards Preview

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Flashcards in Cystic Fibrosis and pulmonary hypertension Deck (19)
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1
Q

What type of genetic mutation in cystic fibrosis

A
  • Autsomal recessive condition
2
Q

What is cystic firbosis casued by

A
  • caused by mutations in the CF transmembrane conductance regulator gene (CFTR) on chromsome 7
3
Q

What does the CFTR gene do

A
  • 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
4
Q

What are the clinical features of the neonate in cystic fibrosis

A
  • failure to thive
  • meconium ileus
  • rectal prolapse
5
Q

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

A

Resp

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

Gastrointestinal

  • pancretic insufficency
  • distal intestinal obstruction
  • gallstones
  • cirrhosis

Other

  • male infertility
  • osteoporosis
  • arthritis
  • vasculitis
  • nasal sinsitus
6
Q

How do you diagnose cystic fibrosis

A

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

7
Q

what effect does cystic fibrosis have on organs

A
  • fatty liver
  • cirrhosis
  • chronic pancreatitis
  • hyperinflation of the lung
8
Q

How do you manage cystic fibrosis

A
  • 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
  • GORD
9
Q

What is the avergae life span for someone with CF

A

41 years old

10
Q

What is the definition of pulmonary hypertension

A
  • defined as having an mPAP of greater than 25mmHg at rest as measured on right heart catheterization
11
Q

What are the common causes of pulmonary hypertension

A
  • idiopathic
  • heritable
  • drugs
  • congenital heart disease
  • connective tissue disease
  • left heart disease
  • COPD
12
Q

What are the 5 main groups of pulmonary hypertension

A
  • 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
13
Q

What investigations are used to confirm the diagnosis of pulmonary hypertension

A
  • routine blood tests
  • chest X ray
  • ECG
  • echo
  • abdominal liver ultrasound
  • right heart catheterisation
14
Q

What would a chest x ray show in pulmonary hypertension

A
  • enlargement of the pulmonary arteries and major branches

- right atrial and right ventricle enlargement

15
Q

What does an ECG show in pulmonary hypertension

A
  • right ventricular hypertrophy

- right atrial enlargement (P pulmonale)

16
Q

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

A
  • to make sure liver cirrhosis and portal hypertension is not the cause
17
Q

What is the management for pulmonary hypertension

A
  • 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
18
Q

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

A
  • 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
19
Q

What is the difference between pulmonary and systemic pressures

A
  • Pulmonary - tends to be around 8-25 mmHg

- Systemic - tends to be around 80-100mmHg