open access

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

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
·
Pubmed: 29288477
·
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.

Get Citation

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

Pubmed

29288477

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

References (14)
  1. Chorostowska-Wynimko J, Popławska B, Janciauskiene S. The role of alfa-1 antitrypsin in human physiology and pathology. Int Rev Allergol Clin Immunol. Family Med. 2012; 18: 22–28.
  2. de Serres FJ, Blanco I. Prevalence of α1-antitrypsin deficiency alleles PI*S and PI*Z worldwide and effective screening for each of the five phenotypic classes PI*MS, PI*MZ, PI*SS, PI*SZ, and PI*ZZ: a comprehensive review. Ther Adv Respir Dis. 2012; 6(5): 277–295.
  3. Popławska B, Janciauskiene S, Chorostowska-Wynimko J. [Genetic variants of alpha-1 antitrypsin: classification and clinical implications]. Pneumonol Alergol Pol. 2013; 81(1): 45–54.
  4. American Thoracic Society, European Respiratory Society. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003; 168(7): 818–900.
  5. Janciauskiene SM, Bals R, Koczulla R, et al. The discovery of α1-antitrypsin and its role in health and disease. Respir Med. 2011; 105(8): 1129–1139.
  6. Blanco I, Lara B, de Serres F. Efficacy of alpha1-antitrypsin augmentation therapy in conditions other than pulmonary emphysema. Orphanet J Rare Dis. 2011; 6: 14.
  7. Girschikofsky M, Arico M, Castillo D, et al. Management of adult patients with Langerhans cell histiocytosis: recommendations from an expert panel on behalf of Euro-Histio-Net. Orphanet J Rare Dis. 2013; 8: 72.
  8. Hayashi T, Rush WL, Travis WD, et al. Immunohistochemical study of matrix metalloproteinases and their tissue inhibitors in pulmonary Langerhans' cell granulomatosis. Arch Pathol Lab Med. 1997; 121(9): 930–937.
  9. Zyada MM. Expression of matrix metalloproteinase-9 and significance of a macrophage assay in eosinophilic granuloma. Ann Diagn Pathol. 2009; 13(6): 367–372.
  10. Struniawski R, Szpechcinski A, Poplawska B, et al. Rapid DNA extraction protocol for detection of alpha-1 antitrypsin deficiency from dried blood spots by real-time PCR. Adv Exp Med Biol. 2013; 756: 29–37.
  11. Chorostowska-Wynimko J, Struniawski R, Popławska B, et al. [The incidence of alpha-1-antitrypsin (A1AT) deficiency alleles in population of Central Poland--preliminary results from newborn screening]. Pneumonol Alergol Pol. 2012; 80(5): 450–453.
  12. Prasse A, Stahl M, Schulz G, et al. Essential role of osteopontin in smoking-related interstitial lung diseases. Am J Pathol. 2009; 174(5): 1683–1691.
  13. Marchal J, Kambouchner M, Tazi A, et al. Expression of apoptosis-regulatory proteins in lesions of pulmonary Langerhans cell histiocytosis. Histopathology. 2004; 45(1): 20–28.
  14. Tazi A, Moreau J, Bergeron A, et al. Evidence that Langerhans cells in adult pulmonary Langerhans cell histiocytosis are mature dendritic cells: importance of the cytokine microenvironment. J Immunol. 1999; 163(6): 3511–3515.

Important: This website uses cookies. More >>

The cookies allow us to identify your computer and find out details about your last visit. They remembering whether you've visited the site before, so that you remain logged in - or to help us work out how many new website visitors we get each month. Most internet browsers accept cookies automatically, but you can change the settings of your browser to erase cookies or prevent automatic acceptance if you prefer.

Czasopismo Pneumonologia i Alergologia Polska dostęne jest również w Ikamed - księgarnia medyczna

Wydawcą serwisu jest "Via Medica sp. z o.o." sp.k., ul. Świętokrzyska 73, 80–180 Gdańsk

tel.:+48 58 320 94 94, faks:+48 58 320 94 60, e-mail: viamedica@viamedica.pl