Cystic Fibrosis Flashcards
1
Q
What is this describing?
Autosomal dominant, Caucasians primarily, 1/25 carry faulty gene, all UK babies screened at birth.
A
Cystic fibrosis
2
Q
What is the aetiology of cystic fibrosis?
A
- Mutation of chloride channel coded on chromosome 7.
- Defective chloride secretion and increased sodium absorption across airway epithelium.
- Predisposes the lung to chronic pulmonary infections and bronchiectasis.
3
Q
What is this a presentation of?
Neonate, failing to thrive, meconium ileus, rectal prolapse.
A
Cystic fibrosis
4
Q
What is this a presentation of?
Child, cough, wheeze, recurrent infection, bronchiectasis, pneumothorax, haemoptysis, respiratory failure, cor pulmonale. Pancreatic insufficiency, distal intestinal obstruction, gallstones, cirrhosis.
A
Cystic fibrosis
5
Q
How is suspected cystic fibrosis investigated?
A
- Diagnostic sweat test - Na and Cl >60mmol/L (Cl > Na)
- FBC, U&Es, LFTs, clotting, vitamin A/D/E, annual OGTT from 12 years.
- Sputum culture
- CXR - hyperinflation, bronchiectasis
- Abdominal USS - NAFLD, chronic pancreatitis
- Spirometry - obstructive
6
Q
What is the management of cystic fibrosis?
A
- Chest physiotherapy, antibiotics for acute and prophylaxis, mucolytics, bronchodilators, annual CXR.
- Fat soluble vitamin A/D/E/K replacement
- Manage constipation
- DEXA for osteoporosis
- Fertility and genetic counselling
- Oxygen, diuretics, NIV in advanced lung disease
- Treatment plan for diabetes mellitus