Cystic Fibrosis

Question 1

Cystic Fibrosis

Definition

Answer 1

Systemic hereditary disease of the endocrine glands of the body (glands that have ducts that secrete something onto the surface)

Results in copious amounts of thick secretions

Question 2

Cystic Fibrosis: Pathophysiology

(5)

Answer 2

• Most commonly manifests in lungs, liver, kidneys, & intestines
• Ion transport dysfunction: INC electrolyte (Na & Cl) content in sweat
• INCing obstruction of exocrine ducts by thick secretions
• INC secretion rentention in lungs leads to recurrent lung infections, fibrosis/scarring, cystic dilations of the bronchi
• Malabsorption of nutrients - pancreatic insufficiency = not getting as much absorption of food consumed

Question 3

Cystic Fibrosis: Etiology

(2)

Answer 3

• Autosomal-recessive gene that affects the exocrine glands
  ** cystic fibrosis transmembrane conductance regulator (CFTR) protein**
• Diagnosed in childhood (impaired growth & development - difficulty absorbing nutrients from food Take pancreatic enzymes endogenous - externally)

Question 4

Cystic Fibrosis: Organs Affected

(7)

Answer 4

1. Sinuses - sinusitis (infection)
2. Lungs - think, sticky mucus buildup, bacterial infection, & widened airways
3. Skin - sweat glands produce salty sweat
4. Liver - blocked biliary ducts
5. Intestines - cannot fully absorb nutrients
6. Pancreas - blocked pancreatic ducts
7. Reproductive organs - male & female complications

Question 5

Cystic Fibrosis: Clinical Presentation

(6)

Answer 5

Genetic testing & chloride sweat test often used to help diagnose CF

Inspection:
- Low weight (despite healthy appetite, possible osteoporosis)
Osteoporosis - dec bone density b/c lack of absorption
- INC RR
- Barrel chest - may present as an obstructive disease (air trapping)
- Clubbing - hypoxemia
- Chronic productive cough - want to expel that mucus
- Copious amounts of mucopurulent mucus (yellow - infection) or purulent mucus (green) - often w/ blood in sputum

Palpation:
- Tactile Fremitus: CF may be obstructive, restrictive, or mixed
Depends on the ratio of air vs secretions or consolidation
Obstructive = DEC, Restrictive = INC

Percussion:
- CF may be obstructive (hyper-resonant), restrictive (dull), or mixed

Auscultation:
- DEC BS, inspiratory/expiratory crackles, wheezing

** If both options are on the test - CF is characterized by the large amount of secretion so
INC - tactile fremitus & Dull percusion