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25 Cards in this Set
- Front
- Back
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Who has better survival w/CF, males or females?
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Males, by a bit.
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What is the most common lethal genetic dz in the Caucasian population?
How common is it? Are carriers asymptomatic? The (delta)F508 mut CFTR accounts for __ of CF alleles worldwide. Is it one of the more serious mutations? There are well over _____ mutations to the CFTR gene that cause CF. |
CF
1:29 carries mut CFTR gene (need two in order to get the dz). No. 2/3; yes, typically leads to pancreatic insufficiency & lung Dz. 1000 |
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What do you need to make a Dx of CF?
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1 or more typical phenotypic features AND evidence of CFTR malfunction.
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Which systems can be affected by CF clinically?
Is Family Hx important in CF? |
Sooooo many:
Hepatobiliary GI Airways Sweat Nasal polyps MSK >90% of men have congenital bilateral absence of the vas deferens. Digital clubbing Yes. |
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How might adults with atypical CF present? What percentage of total cases might this make up?
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2% of total cases
Lung/sinus dz, normal/borderline sweat Cl-'s or single clinical feature predominates (liver, sinus, pancreas, urogenital, metabolic) |
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Can alcohol consumption provoke sx in CF pts? Even a beer?
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yes. Yes.
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Label the following as either classic CF or nonclassic CF:
1 - chronic sinusitis - severe chronic bacterial infection of airways - severe hepatobiliary dz (10-15% of cases) - pancreatic exocrine insufficiency - maconium ileus at birth (10-15%) - NaCl value high - Obstructive azoospermia 2. - chronic sinusitis - chronic bacterial infection of airways (typically later onset, but variable) - adequate pancreatic exocrine fx (pancreatitis in 5-20%) - NaCl value usually only slightly high - obstructive azoospermia |
1. Classic CF (no fx CFTR protein)
2. Nonclassical CF; some functional CFTR protein. |
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Which Sx in CF correlates well with survival?
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Extent of Pancreatic Dz.
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What are three lab tests that can help Dx CF?
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Elevated Sweat Cl
Mut in CFTR on both alleles (DNA testing) Characteristic airway epithelial bioeletric abnormalities (Nasal PD) |
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Describe the pulmonary manifestations of CF (Sx, CXR, PFT, Microbiology)
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Sx: cough, sputum, dypsnea become chronic, w/ periods of exacerbation
CXR: hyperinflation, Cystic bronchiectasishworse in upper lobes w/o airspace filling PF: normal @ birth, then progressive obstruction on spirometry. Hypoxemia and hypercapnia in adv. diz. MicroB: sterile airways @ birth, rapidly colonized w/ typical CF pathogens. |
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Do pulmonary exacerbations require txt?
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yes.
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what are b. cepacia and psuedomonas a. associated w/ when they're found in the sputum of CF pts?
Which B. cepacia precludes transplant? |
Poor outcomes.
G III: Cenocepacia |
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Hemoptysis in CF pts usually originates with...
Often occurs with what? Can it be life threatening? Tx? |
bronchial artery circulation and systemic collaterals.
exacerbation (tx it as if it is one) Yes. Reverse coagulopathy (vit K); treat infection, protect airway |
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What is the dreaded end-stage complication of CF?
Presentation? Is Diabetes related to CF? What is incidence related to? State if the following are related to CF: gall bladder dz osteopenia CF arthopathy vasculitis female infertility |
Respiratory failure.
Hypoxemia, hypercapnic... difficult living tolerably, don't leave the house, etc. Yes, CF-related Diabetes (CFRD). Age related. All are. |
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What is the Diff Dx for CF-esque pts?
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Primary cilliary dyskinesia
Idiopathic bronchiectasis etc. |
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How do we manage CF pts long-term?
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Close monitoring of PF
freq re-evaluation of maintenance regimen (exercise, airway clearance, O2, etc) sputum microbiology Nutritional assessments Txp evaluation |
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How to we tx CF pts acutely:
- infection, hemoptysis, fatigue, weight loss, dyspnea, cough, anorexia - inflammation - airway obstruction from thick secretions |
IV (usually an B-lactam and an aminoglycoside), inhaled, oral antibiotics (directed against sputum bacteriology)
AntiB, steroids Airway clearance: rhDNase, **hypertonic saline**, mucolytics, bronchodilators. |
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How to we Tx CF pts in maintenance therapy?
- infection - inflammation - airway obstruction |
- inhaled & oral antiB
- Ibuprofen, Azithromycin - PT, exercise, ***rhDNase, hypertonic saline, mycolytics*** What bronchodilators. |
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What are rhDNase, Inhaled tobramycin, Azithromycin, Inhaled hypertonic saline?
(very generally speaking) |
PROVEN CF therapies
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Most people w/ CF die of which type of dz (by organ)?
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Lung dz.
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When do we begin to think about transplant? What is the gold standard?
The ___ the LAS score, the more we recommend they get a Txp. What type of data is this based on? What is the waitlist based on? |
When we think their 1-2y survival is better with lung txp.
FEV1: less than 20-25% of predicted. Higher; retrospective. LAS these days. |
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What are obvious contraindications for Lung Txp?
Negative predictors? |
narcotic dependent
really overweight still smoking other organ failiures systemic steroid requirement can't pay GIII B. cepacia, ventilator dependence, poorly controlled diabetes, inability to "rehab", severe malnutrition, severe osteoperosis. |
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Do we usually do a double or a single lung Txp?
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double.
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What are early complications of Txp?
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***Primary graft ***
***Acute rejection*** Infection Metabolic Hematologic Psychiatric neurologic |
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What are long term-complications that kills CF Txp pts?
What is the Double-lung half-life of a txp? |
Chronic brochiobliterans syndrome
Severe renal dysfunction 6.2 years. |
