Cystic fibrosis

Question 1

Definition

Answer 1

Cystic fibrosis (CF) is a genetic disorder that affects the production and function of mucus in the body, leading to the buildup of thick, sticky mucus in the lungs, pancreas, and other organs.

Question 2

Aetiology/ causes

Answer 2

CF is caused by mutations in the CFTR gene, which provides instructions for making a protein that regulates the movement of salt and water in and out of cells.

When this protein is not functioning properly, mucus becomes thick and sticky, clogging airways, ducts, and passageways in the body.

Question 3

Risk factors

Answer 3

CF is an inherited disorder, meaning that a person must inherit two copies of the mutated CFTR gene - one from each parent - to develop the condition.

Individuals with a family history of CF are at higher risk of having a child with the condition.

Question 4

Epidemiology/ Population affected

Answer 4

CF is a relatively rare disease, affecting about 30,000 people in the United States and 70,000 worldwide.

It is most commonly diagnosed in childhood, with the median age of diagnosis being 6 months.

Question 5

Clinical presentation

Answer 5

Chronic coughing
Frequent lung infections
Difficulty breathing
Poor growth
Digestive problems.
CF can also cause infertility in men.

Question 6

Prognosis

Answer 6

The prognosis for CF has improved significantly over the past few decades, thanks to advancements in treatment and care.
However, CF is a chronic and progressive disease, and there is currently no cure.

Treatment can help manage symptoms, prevent complications, and improve quality of life, but the average life expectancy for people with CF is still around 44 years.

Question 7

DDX

Answer 7

Asthma
Chronic obstructive pulmonary disease (COPD)
Inflammatory bowel disease