阻塞性睡眠呼吸暂停低通气综合征患者呼吸调节的家族聚集性研究

Ventilatory control in familial obstructive sleep apnea-hypopnea syndrome

目的 探讨呼吸调节异常是否是引起阻塞性睡眠呼吸暂停低通气综合征 (OSAHS)家族聚集性的原因。方法 对 10例重度OSAHS患者、其一级亲属 16名及单纯肥胖者 14例进行睡眠监测并测定低氧通气反应 (HVR)、高碳酸通气反应 (HCVR)。对OSAHS患者进行持续气道正压通气(CPAP)治疗 ,在治疗的第 1、2、3个月复查HVR和HCVR。结果 (1)OSAHS患者亲属的呼吸暂停及低通气指数 (AHI)为 (2 8 4± 39 1)次 /h ,出现习惯性打鼾、白天嗜睡的比例分别为 10 0 %和 90 % ,与对照组相比明显增高 (分别为P <0 0 5 ,P <0 0 1,P <0 0 1)。 (2 )亲属中无论是否有OSAHS ,其HVR、HCVR分别为 (- 19± 2 4 )cmH2 O、(0 31± 0 35 )cmH2 O/mmHg ,与对照组比较差异无显著性 (P >0 0 5 )。 (3)经CPAP治疗后 ,OSAHS患者的HVR、HCVR恢复正常。结论 OSAHS有家族聚集性 。

Objective To investigate the genetic abnormality of ventilatory control may play a role in the familial aggregation of obstructive sleep apnea-hypopnea syndrome(OSAHS). Methods Ten severe patients with OSAHS,16 first relatives of them and 14 obese subjects were studied and the hypoxic ventilatory response(HVR),the hypercapnic ventilatory response(HCVR) and the results of PSG were analyzed. HVR and HCVR of OSAHS patients were re-examined in the first,second and third month of continuous positive airway pressure(CPAP) treatment. Results (1)For the relatives of the OSAHS patients,the apnea-hypopnea index(AHI) was (28.4±39.1)/h,the incidences of snoring and daytime sleepiness were 100% and 90%,They were higher than those of the control (P<0.05,P<0.01,P<0.01). OSAHS had familial aggregation. (2)The HVR and HCVR were (-19±24)cm H 2O and (0.31±0.35)cm H 2O/mm Hg for the relatives.Neither HVR nor HCVR showed difference between the relatives and the control(P>0.05). Only two of the relatives with severe OSAHS had lower HVR,while the others, whether accompanied with OSAHS or not,had similar HVR and HCVR to the control. (3)HVR and HCVR returned to normal after CPAP therapy in patients of OSAHS. Conclusion OSAHS had familial aggregation,but it was not related to genetic abnormality of ventilatory control.