Genetic and morphologic determinants of pneumothorax in lymphangioleiomyomatosis
Genetic and morphologic determinants of pneumothorax in lymphangioleiomyomatosis
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DOI：
10.1152/ajplung.00176.2007
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发表时间：
2007-09-01
影响因子：
4.9
通讯作者：
Moss, Joel
中科院分区：
文献类型：
--
作者：
Steagall, Wendy K.;Glasgow, Connie G.;Moss, Joel
淋巴管平滑肌瘤病气胸的遗传和形态决定因素。美国生理学杂志肺细胞分子生理学293：L 800-L 808，2007年。首次发表于2007年7月6日; doi：10.1152/ajplung.00176.2007。淋巴管平滑肌瘤病是一种影响女性的多系统疾病，其特征是肺中异常平滑肌样细胞的增殖，导致实质的囊性破坏和复发性气胸。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，以评估其与气胸的相关性。将临床资料和I型和III型胶原蛋白、弹性蛋白和基质金属蛋白酶-1基因多态性与气胸患病率进行比较。在227例患者中，57%报告至少有一次气胸。高分辨率计算机断层扫描显示的囊肿大小与气胸相关;有气胸病史的患者比无气胸病史的患者更可能有较大的囊肿。在轻度疾病患者中，有气胸病史的患者1秒用力呼气量（FEV 1; P = 0.001，经年龄校正）下降速度快于无气胸病史的患者。I型和III型胶原蛋白和基质金属蛋白酶-1基因多态性的基因型频率在气胸患者和非气胸患者之间存在差异。较大的囊肿可能使淋巴管平滑肌瘤病患者容易发生气胸，在疾病的早期阶段，气胸与FEV 1下降速度更快相关。I型和III型胶原和基质金属蛋白酶-1基因的多态性可能导致肺细胞外基质的差异，从而导致对气胸的更大易感性。
Genetic and morphologic determinants of pneumothorax in lymphangioleiomyomatosis. Am J Physiol Lung Cell Mol Physiol 293: L800-L808, 2007. First published July 6, 2007; doi:10.1152/ajplung.00176.2007. 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 ( FEV1; 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 FEV1. 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.