阐明肺朗格汉斯细胞组织细胞增生症与α1 抗胰蛋白酶缺乏症之间的关系。
Clarifying the relationship between pulmonary langerhans cell histiocytosis and Alpha 1 antitrypsin deficiency.
机构信息
Department of Respiratory Medicine, St. Vincent's University Hospital, Dublin 4, Ireland.
School of Medicine, University College Dublin, Dublin 4, Ireland.
出版信息
Orphanet J Rare Dis. 2021 Feb 9;16(1):72. doi: 10.1186/s13023-021-01720-9.
Pulmonary Langerhans cell histiocytosis (PLCH) is a rare, smoking related, progressive diffuse cystic lung disease that occurs primarily in smokers. The aim of this study was to determine if there was an increase in alpha-1 antitrypsin deficient alleles or phenotypes in a large series of PLCH patients and whether serum alpha-1 antitrypsin levels correlated with markers of disease severity. Fifty PLCH patients, 24 with a diffuse cystic lung pattern and 26 with a typical nodulo-cystic pattern on imaging were included. The mean alpha-1 antitrypsin levels were in normal range for both the population with diffuse cystic lung pattern population (1.39 g/L ± 0.37) and the nodulo-cystic pattern group (1.41 g/L ± 0.21). Deficiency alleles PiZ and PiS were 1% and 2% respectively in the entire study population of 50 patients, demonstrating no increased incidence of alpha-1 antitrypsin deficiency in PLCH. Alpha-1 antitrypsin levels showed no correlation with lung function parameters or extent of cystic lesions on lung computed tomography.
肺朗格汉斯细胞组织细胞增生症（PLCH）是一种罕见的、与吸烟有关的进行性弥漫性囊性肺疾病，主要发生在吸烟者中。本研究旨在确定在一系列大型 PLCH 患者中是否存在α-1 抗胰蛋白酶缺乏等位基因或表型的增加，以及血清α-1 抗胰蛋白酶水平是否与疾病严重程度的标志物相关。本研究纳入了 50 名 PLCH 患者，其中 24 名患者的影像学表现为弥漫性囊性肺模式，26 名患者为典型的结节性囊性模式。弥漫性囊性肺模式人群（1.39 g/L ± 0.37）和结节性囊性模式组（1.41 g/L ± 0.21）的平均α-1 抗胰蛋白酶水平均在正常范围内。在整个 50 例患者的研究人群中，PiZ 和 PiS 缺陷等位基因分别为 1%和 2%，表明 PLCH 中α-1 抗胰蛋白酶缺乏的发生率没有增加。α-1 抗胰蛋白酶水平与肺功能参数或肺部 CT 上囊性病变的范围均无相关性。
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