Alpha-1 antitrypsin in the serum, phenotyping
| Material: | 2 ml serum |
| Methods: | Elektrophorese → Elektrophorese |
| Indication | Detection of the alpha-1 antitrypsin phenotype, i.e. Pi MZ and Pi ZZ. |
| Please note | Pi: ZZ characteristics carriers have the most markedly decreased alpha-1 antitrypsin concentration (15 % of the norm). In childhood, there are often liver diseases (icterus prolongatus, infant chronic hepatitis). Polymerization of the Z-variant in the endoplasmic reticulum of the liver cell and consequent proteotoxicity is the underlying reason for hepatopathy. After the 7th year of life, there are increased pulmonary changes (pulmonary emphysema) by decreased inhibition of PMN elastase. After the 50th year of life (partly already during childhood), there is an increase in liver cirrhosis and liver cancer. Characteristics carriers of Pi: SZ and Pi: MZ (A1AT concentration < 40 or < 60 % of the norm) show heightened predisposition for liver illnesses and pulmonary emphysema. Smoking increases the risk. |
| External services | ja MVZ Dr. Eberhard & Partner Dortmund |
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