Review Note
Last Update: 12/28/2023 09:26 PM
Current Deck: Duke Pathoma::09_pulm
Published
Fields:
Front
What is the most common clinically relevant mutation causing A1AT deficiency? How do heterozygotes and homozygotes present?
Back
"PiZ" is the mutant a1-AT allele, "PiM" being the wild type.
PiMZ heterozygotes are typically asymptomatic, thought significant risk fro developing empysema exists if smoking is initiated.
PiZZ homozygotes are at baseline high risk for panacinar emphysema and liver cirrhosis (liver biopsy revelas pink, PAS+ globules of accumulated protein in hepatocytes)
Suggested Changes:
Deck Changes (Suggestion to move the Note to the following Deck):
Field Changes:
Tag Changes: