Cystic Fibrosis

Question 1

What is this describing?

Autosomal dominant, Caucasians primarily, 1/25 carry faulty gene, all UK babies screened at birth.

Answer 1

Cystic fibrosis

Question 2

What is the aetiology of cystic fibrosis?

Answer 2

1. Mutation of chloride channel coded on chromosome 7.
2. Defective chloride secretion and increased sodium absorption across airway epithelium.
3. Predisposes the lung to chronic pulmonary infections and bronchiectasis.

Question 3

What is this a presentation of?

Neonate, failing to thrive, meconium ileus, rectal prolapse.

Answer 3

Cystic fibrosis

Question 4

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.

Answer 4

Cystic fibrosis

Question 5

How is suspected cystic fibrosis investigated?

Answer 5

1. Diagnostic sweat test - Na and Cl >60mmol/L (Cl > Na)
2. FBC, U&Es, LFTs, clotting, vitamin A/D/E, annual OGTT from 12 years.
3. Sputum culture
4. CXR - hyperinflation, bronchiectasis
5. Abdominal USS - NAFLD, chronic pancreatitis
6. Spirometry - obstructive

Question 6

What is the management of cystic fibrosis?

Answer 6

1. Chest physiotherapy, antibiotics for acute and prophylaxis, mucolytics, bronchodilators, annual CXR.
2. Fat soluble vitamin A/D/E/K replacement
3. Manage constipation
4. DEXA for osteoporosis
5. Fertility and genetic counselling
6. Oxygen, diuretics, NIV in advanced lung disease
7. Treatment plan for diabetes mellitus