对慢性阻塞性肺病呼吸衰竭患者二氧化碳潴留机制的探讨

A study on the genetic factor in the development of carbon dioxide retention in chronic obstructive pulmonary disease patients with respiratory failure

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。

Objective To study the role of the genetic factor in the development of carbon dioxide retention in chronic obstructive pulmonary disease (COPD) patients in respiratory failure. Methods Ventilatory and P 0.1 response to hypercapnia and hypoxia was measured and human leucocyte antigen (HLA) genotypes were determined in five COPD paitents with type Ⅰ respiratory failure and in four with type Ⅱ respiratory failure as well as in 30 normal adult offsprings of them. Results It was found that hypoxia response was consistently low in the five patients with CO 2 retention as well as in their 14 offsprings, but not in the four 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 in the development of CO 2 retention in COPD patients.