M2010.04.15- Integrating Genetics & Pathophys- Cf

Front 1

5 common presenting features of cystic fibrosis

Back 1

1. pulmonary sxs
2. failure to thrive/malnutrition
3. steatorrhea
4. meconium ileus
5. family hx known

Front 2

1. What is the CFTR?
2. Where is it found genetically?
3. Found in what cells?

Back 2

1. cystic fibrosis transmembrane regulator

2. chrom 7

3. all epithelial cells

Front 3

CFTR fxn with Cl- in:
1. sweat glands
2. lungs
3. GI tract

Back 3

1. reabsorption

2. reabsorption

3. secretion w/ H2O

Front 4

1. Most common mutation in CF of N American Caucasians

Back 4

1. Phe508 (F508)

Front 5

In CF, describe the following theories of pulmonary sxs:
1. high salt model
2. low volume model

Back 5

1. no Cl- reabs, more Na+ retained in apical surface, more H2O --> clogged airway

2. No Cl- reabs, upreg of Na+ ch expression & Na reabs, increase H2O reabs to match --> decreased fluid, no ciliary beating

Front 6

4 Pulmonary sequelae of CF

Back 6

1. infection/inflammation
2. obstruction
3. bronchiolitis
4. bronchiectasis

Front 7

1. 3 triggers in CF pulmonary exacerbations
2. 4 sxs of exacerbation
3. 2 predominant bugs in respiratory infections

Back 7

1. changed bacterial density, viral infections, host inflam response

2. change in cough/sputum/PFTs, SOB, fever, weight loss,

3. P. aeruginosa, S. aureus

Front 8

3 sinus effects of CF

Back 8

1. hypertrophy/plasia of secretory elements

2. inflam & edema

3. polyps

Front 9

GI tract effects of CF in:
1. intestine
2. rectum
3. hepatobiliary system (5)

Back 9

1. meconium ileus or distal intestinal obstruction syndr

2. rectal prolapse

3. focal biliary cirrhosis, hypoplastic GB, gallstones, fatty liver, stenosed comm bile duct

Front 10

2 pancreatic effects of CF

Back 10

1. obstructed ducts dilate forming cysts w/ fibrosis

2. exocrine insufficiency causes fat malabsorption

Front 11

2 bone/joint effects of CF

Back 11

1. osteopenia/perosis

2. episodic arthritis

Front 12

GU effects of CF in:
1. men
2. women

Back 12

1. mostly infertile due to poor transport of sperm

2. may be anovulatory, endocervicitis from distended mucous glands

Front 13

CF effects on sweat glands

Back 13

1. increased sensitivity to dehydration in hot weather
2. Na/Cl homeostasis abNL -- salty sweat

Front 14

4 Nutritional concerns w/ CF pts

Back 14

1. increased caloric demand, especially during exacerbations

2. decrease intake & malabsorption

3. can have CF related diabetes

4. good nutrition & weight assoc'd w/ better outcomes

Front 15

2 types of CF dx

Back 15

1. clinical evidence

2. lab evidence (sweat Cl- level, genotyping)

Front 16

List 7 categories of CF tx

Back 16

1. airway clearance
2. ABX
3. bronchodilators
4. nutrition
5. anti-inflam
6. mucolytics
7. lung transplant

Front 17

2 pronged management of pulmonary exacerbations in CF

Back 17

1. IV ABX

2. increased airway clearance frequency