PiZ analysis of alpha 1 antitrypsin


Follow-up analysis for Goodpasture’s syndrome and Wegener’s granulomatosis and other renopulmonary syndromes. Indicates patients who should be monitored closely.


The alpha-1 antitrypsin PiZ gene has a mutation which makes the amino acid 342 become a glycine instead of a glutamic acid. This affects the folding of the protein and the export from the liver and results in a lower concentration of alpha-1 AT.


The result is given as negative or positive.


A heterozygous form of alpha-1 AT occurs in about 4.7% of the normal population and a homozygous form occurs in about 6 out of 10,000 individuals. Heterozygotes have a somewhat lower level of alpha-1 AT in the blood, whereas homozygotes only have 5-10% of the normal concentration of 0.9-1.7 g/l. Patients with PR3-ANCA have an overrepresentation of PiZ. About 20% may have the gene and in the group of biopsy verified granulomas 1/3 had the PiZ gene. These patients often have more organs involved in the disease and a significantly shorter survival.

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