Term
| Of the organ systems affected by CF, which is the major cause of morbidity and mortality? |
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Definition
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Term
| Which race is most affected by CF? |
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Definition
| Caucasian (1 in 2,000 to 3,000 live births) |
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Term
| What chromosome is affected by CF mutation and what does the gene encode? |
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Definition
| Chromosome 7 - encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein - Cl channel found in all exocrine tissues |
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Term
| Describe the inheritance pattern of CF |
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Definition
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Term
| What is caused by deranged Cl transport? |
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Definition
| Thick, viscous secretions in the lungs, pancreas, liver, intestines, and reproductive tract, increased salt content in sweat gland secretion |
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Term
| How are the lungs affected by CF? |
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Definition
| thick secretions in the bronchi and bronchioles impair ciliary fxn and prevent the upward migration of mucus |
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Term
| What type of respiratory sx/conditions does this cause CF pts to have? |
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Definition
| persistent, chronic cough and chronic bronchitis w/ or w/o bronchiectasis, digital clubbing often present |
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Term
| Acute pulmonary exacerbations of CF pts are characterized by what? |
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Definition
| Increased cough, tachypnea, dyspnea, increased sputum production, and wt loss |
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Term
| Which pathogenic bacterias typically colonize the airway of CF pts early in life? |
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Definition
| Staph aureus, H. influ, pseudomonas |
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Term
| Is is possible to fully eradicate these bacteria? |
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Definition
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Term
| What does pancreatic insufficiency cause in CF pts? |
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Definition
| insufficient secretion of enzymes leads to malabsorption of fat and protein often resulting in FTT. Biliary cirrhosis and and portal HTN also result |
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Term
| How are PFTs altered in CF pts |
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Definition
| Consistent w/ obstructive airway dz: elevated TLC and FRC, decreased VC and FEV1 |
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Term
| Which vitamins and minerals are often deficient in CF pts? What GI sx occurs as a result of fat malabsorption |
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Definition
| Fat soluble vitamins (A, D, E, K) and zinc. Steatorrhea |
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Term
| What is a physical sign of zinc deficiency? |
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Definition
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Term
| What condition in newborns is most often only found in CF? |
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Definition
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Term
| What sinus disease occurs in 90-100% of CF pts > 8 mths of age? |
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Definition
| Panopacification of the paranasal sinuses |
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Term
| What other condition of the nose is commonly seen in CF pts? |
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Definition
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Term
| What % of men w/ CF are infertile? Why does this occur? |
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Definition
| 95% - typ d/t absent vas deferens, have adequate spermatogenesis |
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Term
| What % of women with CF are infertile? Why? |
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Definition
| 20% - amenorrhea d/t malnutrition, abnormally tenacious cervical mucus |
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Term
| What are the typical clinical presentations that leads to CF dx? |
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Definition
| Respiratory sx, FTT, steatorrhea, meconium ileus |
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Term
| What are the typical clinical presentations in pts >18 yo that lead to CF dx? |
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Definition
| GI sx, DM, infertility (more likely to have an unusual genetic mutation) |
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Term
| What is the gold standard test to dx CF? |
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Definition
|
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Term
| What chemical is used to stimulat sweating? what is considered an abnormal sweat chloride level? |
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Definition
| Pilocarpine iontophoresis, >60 mEq/L (need 50mL sweat in 45 min to be valid) |
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Term
| What other test can be performed? |
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Definition
| Genetic testing by blood sample or buccal mucosa swab - identifies 90% of CF chromosomes |
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Term
| what is tested in newborn screening for CF? When is this test no longer valid? |
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Definition
| Tests for elevated blood levels of immunoreactive trypsin (IRT). Not valid /p 8 wks of age |
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Term
| What meds are used to tx CF? |
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Definition
| bronchodilators (beta 2 agonists, anticholinergic, theophylline), NSAIDS (ibuprofen), inhaled or systemic glucocorticoids, abx for exacerbations, saline nebulizer |
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Term
| What non pharmacologic therapy can be used to tx pulmonary sx of CF? |
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Definition
| Chest physiotherapy (postitioning, manual therapy, specialized vest) |
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Term
| What are indications for lung transplants? |
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Definition
| FEV1 <30%, severe hypoxemia, hypercarbia, increasing functional impairment, life-threatening pulmonary complications, increasing avx resistance bacteria |
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Term
| What is the average life expectancy? |
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Definition
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Term
| Who is recommended to have prenatal CF screening? |
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Definition
| family h/o CF, reproductive partners of CF pts, couples planning to have children in which one or both partners is caucasian and of european or ashkenazi descent |
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Term
| What are the most common sx of CF pts? |
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Definition
| salty tasting skin, persistent cough, frequent lung infx, wheezing or SOB, poor growth/wt gain, steatorrhea, nasal polyps |
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