Cystic Fibrosis, Thoracic Surgery, Pulmonary Vascular Disease

Question 1

Is CF dominant or recessive?

Answer 1

Autosomal recessive

Question 2

Main cause of morbidity and mortality within CF

Answer 2

Respiratory failure (90% of deaths)

Question 3

Protein involved in CF

Answer 3

Cystic fibrosis transmembrane conductance regulator protein (CFTR)

Question 4

Pathology following abnormality in the CF protein

Answer 4

Chloride trapped in cells. Sodium and water then flow in.
Dehydrates airway surface liquid and mucous layer. Therefore thick, sticky mucous.
Reduced ability to fight infection

Question 5

Of the 6 classes of mutation of CFTR which are more severe and milder?

Answer 5

Class 1-3 = severe

Class 4-6 = milder

Question 6

How is CF diagnosed?

Answer 6

All babies screened
Newborn blood spot (Guthrie test)
If positive then referred for clinical assessment and sweat test

Question 7

Chloride values in sweat test meanings (chances of CF)

Answer 7

>60mmol/L = high chance of CF
30-59mmol/L = inconclusive 
<30mmol/L = probably not CF

Question 8

Clinical features of CF

Answer 8

Pancreatic insufficiency

Recurrent lung infections

Question 9

Bullous lung disease definition

Answer 9

Abnormal airspace in lungs > 2cm in diameter

Question 10

Can CF patients have single lung transplant

Answer 10

No. Has to be double

Question 11

Symptoms of pulmonary embolism

Answer 11

Pleuritic chest pain
Cough
Haemoptysis
Syncope or cardiac arrest

Question 12

Signs of pulmonary embolism

Answer 12

Pyrexia, pleural rub, pleural effusion

Tachycardia, tachypnoea, hypoxia, hypotension

Question 13

Pulmonary hypertension definition

Answer 13

Mean pulmonary artery pressure >25mmHg

Question 14

What gene is mutation for CF on?

Answer 14

7