Notes in 07_Alpha-1

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Published	02/10/2024	{{c1::Alpha-1 Antitrypsin Deficiency}} is {{c2::an autosomal codominant genetic disorder characterized by a defective AAT enzyme}}
Published	02/10/2024	In Alpha-1 Antitrypsin Deficiency, a defective AAT enzyme leads to high levels of {{c1::neutrophil elastase}} which cause liver and lung damage (…
Published	02/10/2024	Genetics of {{c2::Alpha-1 Antitrypsin Deficiency}} Inheritance: {{c1::Autosomal codominant}} Mutation: {{c1::SERPINA-1 gene mutation on chromosome 14}…
Published	02/10/2024	Presentation of {{c2::Alpha-1 Antitrypsin Deficiency}} {{c1::Paracinar emphysema (dyspnoea and wheeze at age 30-40)}} {{c1::Liver disease (late sign, …
Published	02/10/2024	In Alpha-1 Antitrypsin Deficiency, a unique blood test is {{c1::serum AAT}} which shows {{c1::decreased serum AAT (<10 micromol/L)}}
Published	02/10/2024	In Alpha-1 Antitrypsin Deficiency, spirometry shows an {{c1::obstructive picture}}
Status	Last Update	Fields