张荣葆 丁东杰 陈尔璋 何权瀛 徐伟 高占成 100044 北京医科大学人民医院呼吸科 中华内科杂志 1998 0 0 11


    关键词：阻塞性，肺疾病；呼吸驱动；HLA 期刊 zhnkzz 0 论 著 fur -->


    

【摘要 】 目的 探讨慢性阻塞性肺病(COPD)呼吸衰竭患者二氧化碳潴留与遗传因素的关系。方法 对9例COPD呼吸衰竭患者和其子女(30例)进行呼吸驱动反应性测定及人白细胞抗原(HLA)分型和遗传连锁分析。结果 伴二氧化碳潴留患者的低氧呼吸驱动反应性明显低于不伴二氧化碳潴留者，其子女(14例)低氧呼吸驱动反应性也低于不伴二氧化碳潴留者的子女，并与亲代HLA单倍型有明确连锁关系(θ=0.05，Z=3.24)。结论 人类低氧呼吸驱动反应受基因控制，有明确遗传倾向。伴二氧化碳潴留的COPD呼吸衰竭患者的低氧呼吸驱动反应性基因存在某种异常，这种基因异常可遗传给子代。基因异常所致低氧呼吸驱动反应性降低是致COPD呼吸衰竭患者二氧化碳潴留的重要因素。

A study on the genetic factor in the development of carbon dioxide retention in chronic obstructive pulmonary disease patients with respiratory failure Zhang Rongbao, Ding Dongjie, Chen Erzhang, et al. Department of Respiratory Medicine, People'sHospital, Beijing Medical University, Beijing 100044

【Abstract 】 Objective To studythe role of the genetic factor in the development of carbon dioxide retention in chronicobstructive pulmonary disease (COPD) patients in respiratory failure. Methods Ventilatory and P_0.1 response to hypercapnia and hypoxiawas measured and human leucocyte antigen (HLA) genotypes were determined in five COPDpaitents with type Ⅰ respiratory failure and in fourwith type Ⅱ respiratory failure as well as in 30normal adult offsprings of them. Results It was found that hypoxia response was consistently low in the fivepatients with CO₂ retention as well as in their 14 offsprings, but not in thefour COPD patients in type Ⅰ respiratory failure.There was a close linkage between HLA genotype and reduced hypoxia response, while θ=0.05, Z=3.24 as calculated by Lod value. Conclusion It is concluded that genetic factor may play an important role inthe development of CO₂ retention in COPD patients.

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