Abstract
Introduction: Inherited alpha-1 antitrypsin deficiency (A1ATD) is one of the three most common genetic disorders in Caucasians. It considerably increases the risk of progressive obstructive lung diseases, mostly chronic obstructive pulmonary disease. There is no data regarding A1ATD prevalence in patients with pulmonary Langrhans cell histiocytosis (PLCH). PLCH is strongly connected with cigarette smoking and the polycystic lung lesions are observed in the course of the disease.
Material and methods: 34 blood samples were collected from adult patients (14 women and 20 men) with histologically confirmed PLCH. AAT serum concentration was measured by nephelometry and PI-phenotype identified by isoelectrofocusing. The PI*S and PI*Z alleles were confirmed by real-time PCR.
Results: Deficiency alleles PI*Z and PI*S were present in 3 patients (one woman and 2 men), respectively in 5,88% and 2,94%. Estimated incidence of deficiency alleles was 29,4/1000 (95% CI;10-69,5) for PI*Z and 14,7/1000(95%CI ;13,9-43,3) for PI*S. Our previous screening data in newborn shown the incidence of deficiency alleles was 13,7/1000 (95% CI 5,8-21,5) for PI*Z and 7,6/1000 (95% CI 1,7-13,5) for PI*S.
Conclusions: Incidence of alpha 1 AT deficiency alleles in patients with PLCH was two times higher than in unselected population of newborns.
- © 2013 ERS
