Cystic Fibrosis

Question 1

Cystic fibrosis

Answer 1

Cystic fibrosis is a genetic disorder that affects respiratory ,digestive and reproductive system .
It is caused by mutation in cftr gene leading to production of thick and sticky mucus

Question 2

Etiology

Answer 2

Autosomal recessive gene inheritance mutation in CFTR (cystic fibrosis transmembrane conductance regulator) gene located on chromosome7

Question 3

Pathophysiology

Answer 3

CFTR loss of its function due to dysfunctional transport of Nacl ion/other ion

Abnormal sodium transport across cell membrane causing thick tenacious secreations in lung

Thick sticky resp secreations causes airway obstruction resulting in air trapping and respiratory infection

Question 4

Cfrfunction

Answer 4

Serve as an apical chloride channel in airway ,intestinal/endocrinal cells
The movement of chloride ion and regulation of water content of secreation

Question 5

Clinical features

Answer 5

Respiratory system
Chronic cough with sputum production
Reccyrent infection
Sinusitis
Bronchiectasis
Hypoxia
Clubbing of fingers

Digestive system
Pancreatic insufficiency
Fat soluble vitamine insufficiency
Liver desease

Reproductive system
Male fertility
Sub fertility in females

Hyponatremia
Hypochloraemia

Question 6

Anatomical alterations of lung

Answer 6

Partial bronchial obstruction{ mucus plugging}
Hyperinflation of alveoli
Total bronchial obstruction mucus plugging
Atelectasis bronchiectasis

Question 7

Diagonosis

Answer 7

Sweat test
Newborn screening tests
Sputum test
Genetic test
Mri ct

Question 8

Respiratory.management

Answer 8

Airway clearance technique
chest physio,peep devices
Bronchodialator
Inhalational antibiotics for infection
Lung transplantation
Anti-inflammatory therapy
Corticosteroid
Azithromycin
CFTR modulator target underlying genetic defect to improve lung function
Improve chloride transport
02supplimentation -hypoxemia
NIV