⭐️cystic fibrosis

Question 1

What is it

Answer 1

A genetic disorder affecting the lungs, pancreas, and other organs, causing thick, sticky mucus buildup leading to respiratory and digestive problems.

Question 2

Clinical presentation

Answer 2

Chronic cough with thick mucus
Recurrent lung infections (e.g., Pseudomonas)
Wheezing & shortness of breath
Pancreatic insufficiency → malabsorption, steatorrhea (greasy stools)
Difficulty gaining weight
Meconium ileus in newborns
Salty-tasting skin

Question 3

Epidemiology

Answer 3

Most common in Caucasians (1 in 2,500–3,500 births)
Carrier rate: ~1 in 25 Caucasians
Rare in African & Asian populations

Question 4

Age groups affected

Answer 4

Newborns & children (symptoms start early)
Survival into adulthood (~40-50 years) with treatment

Question 5

Risk factors

Answer 5

📌 Genetic Disorder → Autosomal Recessive Inheritance (both parents must be carriers)

🧬 CFTR Gene Mutation

Both parents must be carriers
1 in 25 Caucasians are carriers
🌍 Ethnicity

Most common in Caucasians (European ancestry)
Rare in African & Asian populations
👶 Family History

Having a sibling or parent carrier increases risk

Question 6

Clinical features

Answer 6

🫁 Respiratory

Chronic cough, wheezing
Frequent lung infections
Bronchiectasis & nasal polyps
🍽️ Gastrointestinal

Pancreatic insufficiency → malabsorption
Steatorrhea (fatty stools)
Liver disease (cirrhosis)
🔬 Other

CF-related diabetes (CFRD)
Male infertility (absent vas deferens)

Question 7

Prognosis

Answer 7

Progressive disease but improving life expectancy
Median survival ~40-50 years
Main cause of death: Respiratory failure
Lung transplant may improve survival