METHODS: We retrospectively enrolled patients with Rett syndrome who underwent a pneumological evaluation combined with a cardiorespiratory polygraphy and/or a pulse oximetry and capnography from 2012 to 2022.
RESULTS: Medical records of 11 patients with Rett syndrome, mean age 13 ± 6 years, were evaluated. Most patients presented with both epilepsy and scoliosis. Five patients showed a pathologic sleep study and/or impaired night gas exchange: mean obstructive apnea-hypopnea index was 4 ± 3 events/hour; mean and minimal SpO2 were, respectively, 93% ± 2% and 83% ± 6%, while mean and maximal transcutaneous carbon dioxide monitoring (PtcCO2) were, respectively, 51 ± 5 mm Hg and 55 ± 8 mm Hg; and mean oxygen desaturation index was 13 ± 11 events/hour. These patients started noninvasive ventilation with clinical benefit and improved gas exchange mostly in terms of PtcCO2 (mean PtcCO2 51 ± 5 mm Hg before and 46 ± 6 mm Hg after noninvasive ventilation).
CONCLUSIONS: Noninvasive ventilation is a suitable option for patients with Rett syndrome.
方法:我们回顾性地纳入了Rett综合征患者,这些患者在2012年至2022年期间接受了肺部评估,并结合了心肺测功和/或脉搏血氧饱和度和二氧化碳图。
结果:11例Rett综合征患者的病历,平均年龄13±6岁,进行了评估。大多数患者同时表现为癫痫和脊柱侧凸。5例患者表现出病理性睡眠研究和/或夜间气体交换受损:平均阻塞性呼吸暂停低通气指数为4±3事件/小时;平均和最小SpO2为,分别,93%±2%和83%±6%,而平均和最大经皮二氧化碳监测(PtcCO2)是,分别,51±5mmHg和55±8mmHg;平均氧饱和度指数为13±11事件/小时。这些患者开始无创通气,临床受益,并且主要在PtcCO2方面改善了气体交换(无创通气前的平均PtcCO2为51±5mmHg,无创通气后的平均PtcCO2为46±6mmHg)。
结论:无创通气是Rett综合征患者的合适选择。