Publications by authors named "Kardelen Karaca Senkal"
A rare AAT variant presenting in a COPD patient: Q0 amersfoort mutation.
Respir Med Case Rep
July 2024
Article Synopsis
- Alpha-1 antitrypsin (AAT) deficiency is a condition where the liver produces low levels of a protein that protects the lungs, leading to emphysema and liver disease, and it may also cause respiratory and skin issues.
- A 56-year-old non-smoking male with a history of COPD experienced worsening breathing difficulties and had reduced AAT levels detected through testing after imaging showed emphysematous changes in his lungs.
- Genetic analysis revealed a specific mutation linked to AAT deficiency, highlighting the importance of considering this condition in patients with unexplained COPD symptoms, especially non-smokers.