Clinical 3 - Genetic Diseases of the Respiratory Tract Flashcards
1
Q
What chromosome is responsible for CF?
A
Long arm of chromosome 7
2
Q
What is the mutation in CF?
AR or AD?
A
Omission of phenylaline at position 508
AR
3
Q
How do CF patients present?
A
Sinusitis, nasal polyps, purulent sputum, atelectasis
4
Q
How is CF diagnosed? (3 things)
A
Positive family history
Sweat chloride greater than 80 mEq/l
Pancreatic insufficiency
5
Q
What can CF cause?
A
COPD and pancreatic deficiency
6
Q
What is bronchiectasis?
A
Ectasia, or dilation of the bronchi due to destruction of bronchial wall
7
Q
What is karatagener syndrome?
A
Ciliary dyskinesia
AR
8
Q
What is the fundamental defect of karatagener disease?
A
Loss of dynein arm
9
Q
What are some treatments of CF?
A
Aerosolized recombinant human DNase1
Inhaled antipsudomonal antibiotic therapy
Azithromycin
Bilateral lung transplant
