Cystic Fibrosis

Question 1

What type of mutation causes CF

Answer 1

Single gene autosomal recessive disease via mutation of CFTR gene one chromosomes 7

Question 2

What occurs as a result of CF

Answer 2

Thickened secretions —> recurrent respiratory tract infections

More chloride leaving cells and more sodium absorbed = secretion dehydration

Question 3

Common History of CF

Answer 3

Recurrent LRTI, Bronchiectasis, nasal polyps via inflammation, gallstones, diabetes

Question 4

Examination of CF

Answer 4

Increased work of breathing, cachexia, finger clubbing, cyanosis more coarse crackles over both bronchiectasis

Signet ring sign on CXR

Question 5

Management and treatment of CF

Answer 5

High calorie diet

Single lung transplant is obsolete (only consider double)