肺朗格汉斯细胞组织细胞增多症——对α-1-抗胰蛋白酶（A1ATD）缺乏等位基因发生率的深入了解。

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

作者信息

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

机构信息

3rd Lung Diseases Department, National Tuberculosis and Lung Disease Research Institute, Płocka 26, Warsaw, Poland.

出版信息

Adv Respir Med. 2017;85(6):297-300. doi: 10.5603/ARM.2017.0051.

DOI:10.5603/ARM.2017.0051

PMID:29288477

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 PIZ and PIS 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 PIS and PIZ alleles were confirmed by genotyping usisng real-time PCR.

RESULTS

Deficiency alleles PIZ and PIS 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 PIZ and 14.7/1000(95%CI; 13.9-43.3) for PIS. According to our previous reports, the expected prevalence of PIZ and PIS 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.

摘要

引言

α-1抗胰蛋白酶缺乏症（A1ATD）是白种人中三种最常见的遗传性疾病之一。它显著增加了进行性阻塞性肺病的风险，主要是慢性阻塞性肺疾病。目前尚无关于肺朗格汉斯细胞组织细胞增多症（PLCH）患者中临床上最重要的主要A1ATD等位基因PIZ和PIS患病率的数据。PLCH不仅与吸烟密切相关，还具有多囊性肺病变的特征。本研究的目的是评估PLCH患者中A1ATD等位基因的发生率。

材料与方法

收集了34例经组织学确诊为PLCH的成年患者（14名女性和20名男性）的血样。通过比浊法评估血清α1抗胰蛋白酶（AAT）浓度，并通过等电聚焦鉴定PI表型。使用实时聚合酶链反应（PCR）通过基因分型确认PIS和PIZ等位基因。

结果

在3例患者（1名女性和2名男性）中检测到缺陷等位基因PIZ和PIS，分别占5.88%和2.94%。PIZ缺陷等位基因的估计发生率为29.4/1000（95%可信区间；10-69.5），PIS为14.7/1000（95%可信区间；13.9-43.3）。根据我们之前的报告，波兰普通人群中PIZ和PIS等位基因的预期患病率分别为13.7/1000（95%可信区间5.8-21.5）和7.6/1000（95%可信区间1.7-13.5）。