Analysis of Genetic Contribution in the Development of Early-onset Chronic Obstructive Pulmonary Disease

1)日本早发性慢性阻塞性肺疾病（COPD）的流行病学调查分析了90例早发性COPD患者的详细资料，男女之比为77/13，表明男性比男性患病率高，这与男性吸烟率高有关。提示早发COPD患者除al-AT外，还对吸烟敏感，这可能与吸烟史有关，即患者在青少年早期即接触吸烟。调查结果显示，16.7%的患者处于肺性恶病质状态，体重指数（BMI）<18，且多为重症。因此，营养不良可能是早发COPD重症患者的原因之一，因此，应在早期提供营养治疗。有住院史者BMI低， ...更多信息 被动吸烟史、哮喘并发症发生率较高或有哮喘史、严重气流受限、肺过度充气和呼吸困难（MRC量表）。胸部CT示15.2%的患者无肺气肿改变，但LAA% < 25%的患者占23%。在肺气肿表型方面，77%的患者表现为小叶中心型肺气肿，与普通COPD的分布一致。此外，与先前关于早发COPD的临床报告相似，大多数无典型肺气肿变化的病例为女性。2）肺纤维化合并肺气肿患者的临床特点吸烟不仅是肺气肿的主要危险因素，也是肺纤维化的主要危险因素。偶尔报告合并肺纤维化和肺气肿的患者。通过CT检查，筛选出25例肺纤维化合并肺气肿患者和90例稳定期COPD患者，仅表现为肺气肿改变而无肺纤维化，并分析肺纤维化合并肺气肿患者的临床特征。我们发现所有合并肺纤维化和肺气肿的患者均为男性。间隔旁气肿型在此类患者中明显更常见。在一半以上的患者中观察到肺癌。肺纤维化均分布于肺下叶。关于肺功能，患者有轻度过度充气和肺弥散量显著降低。合并肺纤维化和肺气肿的患者的临床特征明显不同于单纯肺气肿改变的患者。应特别注意这类患者中常见的肺癌。少

1) The epidemiological investigation of early-onset COPD in Japan.The analysis of the detailed data obtained from 90 patients with early-onset chronic obstructive pulmonary diesease (COPD) showed that the ratio of male to female was 77/13, indicating more prevalence of the disorder in male than male with correspondence to the high rate of smoking in male. This result suggested that, in addition to al-AT, the patients susceptible to early-onset COPD were sensitive to smoking, probably in linkage to smoking history in which the patients exposed to smoking at early age of teenage. The investigation showed that 16.7% of the patients were in pulmonary cachexia status with body mass index (BMI) under 18 and that most of them were severe cases. Thus, it seems that the dystrophia is probably one of the reasons in severe earns with early onset COPD and, therefore, nutrition therapy should be provided in early stage. Moreover, the patients with history of hospitalization presented low BMI, long … More history of passive smoking, more frequency in complication with asthma or having a history of asthma, and severe airflow limitation, pulmonary hyperinflation and dyspnea (by MRC scale). The chest CT illustrated that although 15.2% of the cases did not show emphysematous change, the prevalence of patients with LAA% < 25% was 23%. Regarding the emphysema phenotype, 77% of the patients showed centrlobular emphysematous type, in consistent with the distribution in common COPD. Additionally, similar to previous clinical report concerning early onset COPD, most of the cases without typical emphysematous change were females. Moreover it was relatively high proportion of patients who were difficultly differentiated from asthma Or sinobronchial syndrome if such complications were occurred in early-onset COPD.2) Clinical features of patients with combined pulmonary fibrosis and emphysema.Smoking appears to be the predominant risk factor for not only pulmonary emphysema but also pulmonary fibrosis. Patients with combined pulmonary fibrosis and emphysema are reported occasionally. By computed tomography, we screened 25 patients with combined pulmonary fibrosis and emphysema and 90 patients with stable COPD showing only emphysematous change without fibrosis and then analyzed clinical features of the patients with combined pulmonary fibrosis and emphysema. We found that all the patients with combined pulmonary fibrosis and emphysema were males. The paraseptal emphysematous type was significantly more frequent in such patients. Lung cancer was observed in more than half of the patients. All the patients showed that pulmonary fibrosis was distributed in the lower lobe of the lung. Regarding the lung function, the patients had mild hyperinflations and significantly reduction in lung diffusing capacity. Taking together, the clinical features of patients with combined pulmonary fibrosis and emphysema distinctly differ from those with pulmonary emphysematous change only. Particular attention should be paid to the frequently occurred lungcancer in such patients. Less