open access

Vol 85, No 6 (2017)
PRELIMINARY REPORT
Published online: 2017-12-05
Submitted: 2017-10-23
Accepted: 2017-11-29
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Pulmonary Langerhans cell histiocytosis — insight into the incidence of alfa-1-antitrypsin (A1ATD) deficiency alleles

Elżbieta Radzikowska, Radosław Struniawski, Joanna Chorostowska-Wynimko, Elzbieta Wiatr, Kazimierz Roszkowski-Śliż
DOI: 10.5603/ARM.2017.0051
·
Adv Respir Med 2017;85(6):297-300.

open access

Vol 85, No 6 (2017)
PRELIMINARY REPORT
Published online: 2017-12-05
Submitted: 2017-10-23
Accepted: 2017-11-29

Abstract

Introduction: The 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 prevalence of main, clinically most important A1ATD alleles PI*Z and PI*S in patients with pulmonary Langerhans cell histiocytosis (PLCH). PLCH is not only strongly linked to the cigarette smoking, but is also characterised by polycystic lung lesions. The goal of the study was to assess the incidence of A1ATD alleles in patients with PLCH. Material and methods: Blood samples were collected from 34 adult patients (14 women and 20 men), with histologically confirmed PLCH. AAT serum concentration was assessed by nephelometry and PI-phenotype, identified by isoelectrofocusing. The PI*S and PI*Z alleles were confirmed by genotyping usisng real-time PCR. Results: Deficiency alleles PI*Z and PI*S were detected in 3 patients (one woman and 2 men), respectively in 5.88% and 2.94%. The 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. According to our previous reports, the expected prevalence of PI*Z and PI*S alleles in general Polish population was 13.7/1000 (95% CI 5.8–21.5), and 7,6/1000 (95% CI 1.7–13.5) respectively. Conclusions: The incidence of main A1AT deficiency alleles in patients with PLCH seems higher than in general Polish population. The study is on-going.

Abstract

Introduction: The 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 prevalence of main, clinically most important A1ATD alleles PI*Z and PI*S in patients with pulmonary Langerhans cell histiocytosis (PLCH). PLCH is not only strongly linked to the cigarette smoking, but is also characterised by polycystic lung lesions. The goal of the study was to assess the incidence of A1ATD alleles in patients with PLCH. Material and methods: Blood samples were collected from 34 adult patients (14 women and 20 men), with histologically confirmed PLCH. AAT serum concentration was assessed by nephelometry and PI-phenotype, identified by isoelectrofocusing. The PI*S and PI*Z alleles were confirmed by genotyping usisng real-time PCR. Results: Deficiency alleles PI*Z and PI*S were detected in 3 patients (one woman and 2 men), respectively in 5.88% and 2.94%. The 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. According to our previous reports, the expected prevalence of PI*Z and PI*S alleles in general Polish population was 13.7/1000 (95% CI 5.8–21.5), and 7,6/1000 (95% CI 1.7–13.5) respectively. Conclusions: The incidence of main A1AT deficiency alleles in patients with PLCH seems higher than in general Polish population. The study is on-going.

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Keywords

alpha-1 antitrypsin deficiency, A1ATD, polycystic lung diseases, pulmonary Langerhans cell histiocytosis

About this article
Title

Pulmonary Langerhans cell histiocytosis — insight into the incidence of alfa-1-antitrypsin (A1ATD) deficiency alleles

Journal

Advances in Respiratory Medicine

Issue

Vol 85, No 6 (2017)

Pages

297-300

Published online

2017-12-05

DOI

10.5603/ARM.2017.0051

Bibliographic record

Adv Respir Med 2017;85(6):297-300.

Keywords

alpha-1 antitrypsin deficiency
A1ATD
polycystic lung diseases
pulmonary Langerhans cell histiocytosis

Authors

Elżbieta Radzikowska
Radosław Struniawski
Joanna Chorostowska-Wynimko
Elzbieta Wiatr
Kazimierz Roszkowski-Śliż

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