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9 Cards in this Set
- Front
- Back
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Which form of CF shows more significant lung dz?
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Classic.
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Pts with this CF genotype show more severe dz.
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Homozygotes.
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CF pts are often colonized by this pneumonia bug.
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Psuedomonoas aeurignosa
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Newborns with CF often show markedly increases in this protein. It is possibly a marker of pancreatic injury.
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Immunoreactive trypsinogen (IRT).
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What is the AR strategy for newborn CF screening?
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In deficiency of AAT, most allelic variants provide __ levels of this protein. What is the most clinically significant mutation?
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"Functional levels.
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This is the most common dz causing genotype of AAT deficiency. What lung dz does it cause?
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"PIZZ.
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Explain the pathology behind AAT deficiency and emphysema.
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AAT deficiency allows excessive protease activity, which causes tissue damage and excess mucus production that can obstruct airways.
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How do people with AAT deficiency usually present?
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Emphysema at earlier than normal ages (20-40 years).
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