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

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2
Q

What is the aetiology of cystic fibrosis?

A
  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.
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3
Q

What is this a presentation of?

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

A

Cystic fibrosis

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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

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5
Q

How is suspected cystic fibrosis investigated?

A
  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
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6
Q

What is the management of cystic fibrosis?

A
  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
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