cystic fibrosis

Question 1

cystic fibrosis

Answer 1

syndrome of chronic sinopulmonary infections, malabsorption and nutritional abnormalities. Most common lethal genetic disease in Caucasians, median predicted survival is 37 years, CF gene encodes cystic fibrosis transmembrane conductance regulator (CFTR) protein.

Question 2

CFTR protein

Answer 2

ion channel, controls movement of salt and water in/out of cells, Mutations impair this movement and critically alters host defense in the lung. Mutations are autosomal recessive, located on Chromosome 7 is 250000 bp encoding 27 exons - 1000s of mutaions, but most common is deltaF508.

Question 3

CF symptoms

Answer 3

sinusitis, nasal polyps, endobronchitis, bronchiectasis, exocrine Insufficiency CF related diabetes, Meconium ileus Constipation/DIOS, Focal sclerosis of liver, failure to develop vas deferens, salt-losing dehydration through sweat glands

Question 4

pathophysiology of CF

Answer 4

Abnormal CFTR => Impaired Mucociliary Clearance => Infection and Inflammation => Bronchiectasis and lung damage => functional airway impairment

Question 5

Bronchiectasis

Answer 5

localized, irreversible dilation of part of the bronchial tree. Classified as obstructive lung disease, bronchi are dialated, inflamed, and easily collapsible, results in airflow obstruction and impaired clearance of secretions. Usually results from necrotizing bacterial infections (staphylococcus, Klebsiella, or bordetella pertussis

Question 6

dianosis of CF

Answer 6

Positive NBS (Newborn Screening), or >1 clinical feature of CF, or family history of CF and sweat cloride of >60mmol/L or 2 CF mutations

Question 7

therapeutic approaches for CF

Answer 7

give pancreatic enzymes, vitamins, salt, mucus clearance and nebulizer clearance, inhaled antibiotics, mucolytic agent. These treat symptomes of CF