睡眠低通气致肺动脉高压一家系四例临床分析

目的 提高对睡眠低通气致肺动脉高压的认识.方法 对一家系4例睡眠低通气致肺动脉高压患者的临床资料进行回顾性分析.4例患者为同胞兄弟姐妹,其中2例为南京医科大学附属无锡市人民医院呼吸科收治的病例(例1、例2),2例为经家族史追踪了解到的已故患者(例3、例4).结果 4例中3例(例1、3、4)误诊为肺源性心脏病肺动脉高压,1例(例2)误诊为原发性肺动脉高压.例1、2均经多导睡眠图(PSC)监测发现睡眠持续肺泡通气不足伴随长时间睡眠低氧而明确诊断.肺功能检查均显示最大吸气压(Pimax)占预计值百分比(分别为51.5%、20.9%)、最大呼气压(Pemax)占预计值百分比(分别为51.3%、29.6%)下降,口腔闭合压(PO.1)占预计值百分比(分别为141%、133%)代偿性增高,证实呼吸肌肌力下降,推测为神经肌肉疾病.2例患者经无创通气治疗后症状好转出院,其后长期进行家庭夜间无创通气治疗,均恢复正常工作和生活能力.分别于出院后22、12个月随访,PSG示睡眠持续肺泡通气不足伴随长时间睡眠低氧明显改善,超声心动图示肺动脉压力明显下降.结论 对于不明原因的肺动脉高压患者,PSG监测和Plmax、Pemax、PO.1等肺功能检查有助于明确病因;长期家庭夜间无创通气可有效治疗因睡眠低通气引起的肺动脉高压.

Diagnosis and treatment of pulmonary hypertension caused by sleep hypoventilation: analysis of 4 cases in a family

Objective To summarize the experience in diagnosis and treatment of pulmonary hypertension caused by sleep hypoventilation. Methods The clinical data of 4 patients in a family with pulmonary hypertension caused by sleep hypoventilation, full brothers and sisters, 2 (Cases 1 and 2) being treated presently and 2 (Cases 3 and 4) being deceased and traced by family medical history, were retrospectively analyzed. Results Three of the 4 cases (cases 1, 3, and 4) were misdiagnosed as with cor pulmonale combined with pulmonary hypertension, and one case (case 2) was misdiagnosed as with primary pulmonary hypertension. Polysomnography (PSG) revealed alveolar hypoventilation-indueed long period of oxygen desaturation at sleep in Cases 1 and 2, thus confirming the diagnosis. Pulmonary function test showed that the percentage of maximum inspiratory pressure (PImax) in predicted value (51.5% and 20. 9%) and the maximum expiratory pressure (PEmax) in predicted value (51.3% and 29. 6%) decreased, the percentage of mouth occlusion pressure (PO. 1) in predicted value (141% and 133%) compensatively increased, and the respiratory muscle strength decreased in Cases 1 and 2, which suggested that there was neuromuscular disorder in these patients. Treated by noninvasive ventilation the symptoms of these 2 patients were improved and they were discharge at last. Subsequently, they were treated by long-term night noninvasive ventilation at home, and returned to normal work and life. During the follow-up for 22 and 12 months respectively after discharge, PSG showed that the alveolar hypoventilation-induced long period oxygen desataration at sleep had been greatly improved, and echocardiogram showed that the pulmonary pressure was greatly decreased. Conclusion For the patients with unexplained pulmonary hypertension, PSG monitoring and pulmonary function tests such as Plmax, PEmax, and P0. 1 help determine the etiology, and long-term night noninvasive ventilation at home can improve the outcome of sleep hypoventilation-induced pulmonary hypertension.