Alfa 1 trypsin brist

Alpha-1 antitrypsin deficiency, also known as AATD, or as genetic or inherited emphysema, is a common, inherited genetic condition that can cause chronic lung and liver disease. It can be managed to slow down the progress of the disease. Alpha-1 antitrypsin (AAT) is a protein made in the liver and circulated through the blood. 1 alfa-1 antitrypsinbrist riskgrupp 2 Alpha-1 antitrypsin deficiency is a genetic (inherited) condition that may result in chronic lung and/or liver disease. This resource provides an overview of the condition in addition to the following topic areas: What is alpha-1 antitrypsin; What is alpha-1 antitrypsin deficiency; How are the lungs and liver affected? What is emphysema. 3 alfa-1-antitrypsinbrist levercirros 4 Reference Interval: g/L (method dependent). Application: Detection of hereditary deficiency. Investigation of early onset emphysema; neonatal hepatitis; juvenile cirrhosis; panniculitis. Interpretation: α-1 antitrypsin deficiency is associated with early onset emphysema, hepatitis and cirrhosis and with panniculitis. If deficiency is. 5 In alpha-1 antitrypsin deficiency the result of a genetic abnormality leads to lung and, in some people, liver damage. Lung symptoms are the most common and include shortness of breath, cough and wheezing. Symptoms can worsen over time. At present, there is no cure for alpha-1 antitrypsin deficiency. 6 Alpha-1 antitrypsin deficiency (AATD), also known as alpha-1 proteinase inhibitor deficiency, is a genetic condition that leads to increased risk of lung and liver disease and several other conditions. The spectrum of AATD-related disease and the age at clinical onset is quite broad. 7 alfa-1-antitrypsin normalvärde 8 Alfa-1 antitrypsin är ett protein som minskar aktiviteten hos enzymer som bryter ned bakterier och främmande vävnad. 9 Alfaantitrypsinbrist kan predisponera för lungsjukdom (tex emfysem och bronkiektasi), leversjukdom (tex kronisk hepatit, cirros och hepatom). 10