CF

Pathophysiology

100

What gene does CF affect?

The CFTR gene.

200

Name both ions that is regulated by the CFTR protein.

Sodium and chloride.

300

What causes thickened mucus?

Dehydration in airway epithelia.

400

Name two examples of epithelial cell membranes which are affected by CF?

Either two of:

Sweat gland, lungs, pancreas

500

Name the most common mutation that causes CF?

F508del

Respiratory

100

What is hemoptysis?

Coughing up blood.

200

What is a nasal polyp?

Inflammation and the swelling of the inside of the nose which forms soft fleshy growths.

300

What is bronchiectasis and name one symptoms?

Bronchial tubes expand due to mucus build up

Abnormal widening and scarring of bronchial tubes.

Respiratory failure -> death

400

What is the name of the discharge you cough up?

Sputum

500

Why is bronchiectasis more common in women?

Females have smaller lungs but importantly smaller conductive airways, a psuedostratified ciliated epitheilial tissue with mucus-secreting properties.

Digestive

100

Name the organ responsible for producing insulin.

Pancreas.

200

What are two symptoms of pancreatic insufficiency?

Hinders proper digestion / absorption.

Difficulty in gaining weight.

300

What symptom of CF causes small bacterial overgrowth?

Accumulated thickened mucus acts as an anchor for bacteria -> more bacteria induces mucus secretion.

400

Name all functions of the pancreas.

Either one of:

Insulin production

Digestive enzymes

Pump liquids to aid track flow

Bicarbonate for stomach acid neutralisation

500

Outline how a symptom of CF causes gastroparesis. (There’s two ways, just outline one)

Limited insulin production due to CF (mucus blocks ducts) -> High blood glucose causes GP due to potential nerve damage -> General dysmotility -> GP

OR

Mucus anchors bacteria -> small bowel bacterial overgrowth -> General dysmotility -> GP

Random

100

What percentage of male CF patients have infertility?

97-98%

200

Which country has the highest rate of CF gene carriers? AND What is the percentage statistic?

Ireland 

AND

1 in 19 OR 1 in 1300 babies

300

How does CF affect female infertility?

It does not induce infertility, but makes contraception more difficult.

With CF you have thicker cervical mucus therefore have ovulation issues due to poor nutrition.

400

What does CF skin taste like?

Salty

500

Which geographical demographic has the lowest CF population and why?

Asians :)

Because the CF mutation originated in Europe and also due to underdiagnosis.