Steagall Wendy K, Glasgow Connie G, Hathaway Olanda M, Avila Nilo A, Taveira-Dasilva Angelo M, Rabel Antoinette, Stylianou Mario P, Lin Jing-Ping, Chen Xiaoling, Moss Joel
Pulmonary Critical Care Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland Bethesda, Maryland 20892-1590, USA.
Am J Physiol Lung Cell Mol Physiol. 2007 Sep;293(3):L800-8. doi: 10.1152/ajplung.00176.2007. Epub 2007 Jul 6.
Lymphangioleiomyomatosis, a multisystem disease affecting women, is characterized by proliferation of abnormal smooth muscle-like cells in the lungs, leading to cystic destruction of the parenchyma and recurrent pneumothoraces. Clinical characteristics of lymphangioleiomyomatosis patients were analyzed to determine the relationship of pneumothoraces to disease progression. Patients were genotyped for polymorphisms in genes of extracellular matrix proteins collagen, elastin, and matrix metalloproteinase-1 to assess their association with pneumothoraces. Clinical data and polymorphisms in the genes for types I and III collagen, elastin, and matrix metalloproteinase-1 were compared with the prevalence of pneumothorax. Of 227 patients, 57% reported having had at least one pneumothorax. Cyst size on high-resolution computed tomography scans was associated with pneumothorax; patients with a history of pneumothorax were more likely to have larger cysts than patients who had no pneumothoraces. In patients with mild disease, those with a history of pneumothorax had a faster rate of decline in forced expiratory volume in 1 s (FEV(1); P = 0.001, adjusted for age) than those without. Genotype frequencies differed between patients with and without pneumothorax for polymorphisms in the types I and III collagen and matrix metalloproteinase-1 genes. Larger cysts may predispose lymphangioleiomyomatosis patients to pneumothorax, which, in early stages of disease, correlates with a more rapid rate of decline in FEV(1). Polymorphisms in types I and III collagen and matrix metalloproteinase-1 genes may cause differences in lung extracellular matrix that result in greater susceptibility to pneumothorax.
淋巴管平滑肌瘤病是一种影响女性的多系统疾病，其特征是肺部异常平滑肌样细胞增殖，导致实质组织囊性破坏和反复气胸。分析淋巴管平滑肌瘤病患者的临床特征，以确定气胸与疾病进展的关系。对患者进行细胞外基质蛋白胶原蛋白、弹性蛋白和基质金属蛋白酶-1基因多态性的基因分型，以评估它们与气胸的关联。将I型和III型胶原蛋白、弹性蛋白以及基质金属蛋白酶-1基因的临床数据和多态性与气胸的患病率进行比较。在227例患者中，57%报告至少发生过一次气胸。高分辨率计算机断层扫描的囊肿大小与气胸相关；有气胸病史的患者比无气胸患者更易出现较大囊肿。在轻度疾病患者中，有气胸病史的患者1秒用力呼气量（FEV₁；校正年龄后P = 0.001）下降速度比无气胸病史的患者更快。有无气胸患者在I型和III型胶原蛋白以及基质金属蛋白酶-1基因多态性的基因型频率存在差异。较大囊肿可能使淋巴管平滑肌瘤病患者易患气胸，在疾病早期，这与FEV₁更快的下降速度相关。I型和III型胶原蛋白以及基质金属蛋白酶-1基因的多态性可能导致肺细胞外基质的差异，从而增加对气胸的易感性。
