Cystic Fibrosis and pulmonary hypertension Flashcards
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
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
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
- GORD
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
- COPD
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
- ECG
- 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)
