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

1)日本早发性COPD流行病学调查。对90例早发性慢性阻塞性肺疾病（COPD）患者的详细资料分析显示，男性与女性的比例为77/13，表明男性患病率高于男性，与男性吸烟率高相对应。本结果提示，早发性COPD易感患者除al-AT外，对吸烟敏感，可能与青少年早期吸烟史有关。调查显示，16.7%的患者处于肺恶病质状态，体重指数（BMI）在18以下，其中以重症病例居多。因此，营养不良可能是早发性COPD重症患者发病的原因之一，应在早期给予营养治疗。住院史患者BMI较低，被动吸烟史较长，合并哮喘或有哮喘史的患者较多，气流受限、肺部高充盈、呼吸困难严重（MRC量表）。胸部CT显示，虽然15.2%的病例未出现肺气肿改变，但LAA% < 25%的患者患病率为23%。在肺气肿表型上，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，与以往关于早发性COPD的临床报道相似，大多数无典型肺气肿改变的病例为女性。早发性copd出现哮喘或支气管窦综合征时，难以鉴别的患者比例较高。2)合并肺纤维化和肺气肿患者的临床特征。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。偶有合并肺纤维化和肺气肿的病例报道。通过计算机断层扫描，我们筛选出25例合并肺纤维化肺气肿患者和90例仅肺气肿改变而无纤维化的稳定期COPD患者，分析合并肺纤维化肺气肿患者的临床特征。我们发现合并肺纤维化和肺气肿的患者均为男性。膈旁肺气肿型在这类患者中更为常见。半数以上的患者出现肺癌。所有患者均表现为肺纤维化分布于肺下叶。肺功能方面，患者有轻度的高充血，肺弥漫性明显降低。综上所述，合并肺纤维化合并肺气肿患者的临床特征与单纯肺气肿改变患者明显不同。尤其应注意这类患者的高发肺癌。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