Term
| inheritance of cystic fibrosis |
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Definition
| autosomal recessive, if each parent is a carrier one child will have it, one child won't, and 2 will be carriers |
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Term
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Definition
| CFTR, cystic fibrosis transmembrane conductance regulator, encoded by a gene on chromosome 7, primarily affects cyclic AMP-regulated chloride channels, mutations in both copies of the gene results in clinical disease |
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Term
| other channels affected by cyclic AMP-regulated chloride channels |
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Definition
| sodium bicarb and water transport |
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Term
| What happens with the CF mutation |
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Definition
| get premature transcription termination and then no protein is expressed or there is protein misfolding for the cl channel protien |
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Term
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Definition
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Term
| what happens in CF disease |
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Definition
| one side of the cell has normal cl channels and the other does not so more cl into cell but can't move it out so get sticky mucus building up on outside of cell (leads to pulmonary and pancreatic changes, inc secretions in lungs) (mucus traps bacteria leading to respiratory infections) (get inc'd water absorption due to defective channel) bacterial infections often pseudomonas or staph aureus. recurrent infections lead to recurrent inflammation and destruction of pulmonary airways leading to bronchiectasis and lung insufficiency, takes years to occur |
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Term
| clinical manifestations of CF |
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Definition
| multisystem- sinuses, lungs, pancreatic disease, liver disease, intestines, male reproductive tract (can't make sperm), infertility in females (less commonly) bone involvement- osteoporosis, cystic fibrosis related diabetes, kidney stones, premature cardiovascular disease, GI cancer |
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Term
| what happens in the lungs in CF |
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Definition
| dehydration of the respiratory epithelium and defective mucus clearance results in this increase in viscous secretions predisposing the pt to bacterial colonization leading to bronchioectasis, atelectasis, collapsing of the lungs, recurrent pneumonias, progressive airway obstruction, death from respiratory failure |
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Term
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Definition
| continued widening, scaring and damaging of the airways |
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Term
| recurrent infection and inflammation of lungs leads to |
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Definition
| bronchial cysts which get hypertrophied, then get brachial circulation, pulmonary hypertension and respiratory failute |
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Term
| CF organisms in childhood |
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Definition
| staph aureus and haemophilus influenza |
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Term
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Definition
| , pseudomonas aeruginosa, burkholderia cepacia, mycobacterium avium, aspergillus |
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Term
| diagnostic clinical features of CF |
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Definition
| cough, sputum production, wheezing, air trapping, chronic sinus disease, meconium ileus at time of delivery, pancreatic insufficiency, current pancreatitis |
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Term
| diagnostic testing for CF |
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Definition
| sweat chloride (>60 mmol/L x2 is pos) (higher in older adults), genetic testing for mutation (CFTR mutation analysis) |
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Term
| why is it impt to diagnose CF early by age 3 |
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Definition
| if not then a third of the children at age 3 will have mucus obstruction, bronchioectasis, and inflammation, lung damage |
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Term
| other things that can cause an elevated sweat chloride |
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Definition
| malnutrition, untreated adrenal insufficiency, untreated hypothyroidism, but also anorexia, atopic dermatitis, G6PD deficiency, some of the glycogen storage diseases |
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Term
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Definition
| reducing the increased secretions, airway clearing, postural drainage, percussion, direct cough, Thairapy vest, exercise (inc FEC and FEV1), hypertonic saline (be careful 1st time) |
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Term
| anti-inflammatory treatments for CF |
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Definition
| chronic systemic steroids (slow down decline in lung function but SEs), inhaled corticosteroids, chronic NSAIDS in 5-12 year olds |
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Term
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Definition
| azithromycin (also anti-inflammatory), macrolides (standard of care) (anti-inflammatory and anti-infective) (give long term for pseudomonus) (can break down the biofilm pseudomonas forms on surface of lungs), chronic nebulized antibiotics- tobramycin, aztreonam, colistin |
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Term
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Definition
| broncho reactivity, spasms, sulfur smell |
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Term
| type of respiratory failure in CF |
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Definition
| hypoxemic (put on supplemental O2), hypercapnic (assisted ventilation of BiPAP) |
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Term
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Definition
| control the breathing, control airway |
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Term
| CF patient are often deficient in |
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Definition
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Term
| treatment for osteoporosis |
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Definition
| vit D, calcium, exercise, possibly bisphosphonates |
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Term
| test for pancreatic abnormalities |
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Definition
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Term
| treatment for pancreatic issues |
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Definition
| fat soluble vitamins, pancreatic enzyme replacements(lipase, proteases, amylase- extracts from porcine or pig pancreases, take with each meal), high caloric intake |
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Term
| CF related diabetes treatment |
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Definition
| insulin (due to fibrosis in pancreas) |
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Term
| what to monitor in CF patients, how to treat |
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Definition
| head circumference, height, weight, length, BMI, height goal, 24 hr diet recall, lung function, infections, albuterol to open airways, chest physiotherapy to loosen secretions, hyptertonic saline, inhaled antibiotics, exercise, fat soluble vitamins, high calorie supplements, watch for comorbid conditions |
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