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What is Alpha 1 AT Defficiency about?
The document summarizes clinical manifestations, diagnosis, and natural history of alpha-1 antitrypsin deficiency. It discusses how AAT deficiency causes lung disease like emphysema due to an imbalance between neutrophil elastase and AAT levels in the lungs. It is inherited in an autosomal co-dominant pattern and there are over 150 identified alleles. Homozygosity for the Z allele (PI*ZZ) is most common and associated with highest risk for lung and liver disease. The document estimates 80,000 to 100,000 ind
- Author
- Sensing Nonsense
- Language
- EN