Prader -Willi 综合征合并重度睡眠呼吸暂停综合征、肥胖低 通气综合征1 例报告并文献复习

临床儿科杂志 ›› 2019, Vol. 37 ›› Issue (12): 927-.doi: 10.3969/j.issn.1000-3606.2019.12.013

• 遗传、代谢、内分泌疾病专栏 • 上一篇    下一篇

Prader -Willi 综合征合并重度睡眠呼吸暂停综合征、肥胖低 通气综合征1 例报告并文献复习

何燕玉 1, 王宇清 1, 郝创利 1, 韩珺 1, 季伟 1, 严永东 1, 卢敏 1, 徐雪云 1, 陈锐 2   

  1. 1.苏州大学附属儿童医院呼吸科(江苏苏州 215000);2.苏州大学附属第二医院呼吸科 (江苏苏州 215000)
  • 发布日期:2020-02-03
  • 通讯作者: 王宇清 电子信箱
  • 基金资助:

Prader-Willi syndrome with severe sleep apnea syndrome and obesity hypoventilation syndrome: a case report and literature review

 HE Yanyu1, WANG Yuqing1, HAO Chuangli1, HAN Jun1, JI Wei1, YAN Yongdong1, LU Min1, XU Xueyun1, CHEN Rui2   

  1. 1.Department of Respiration, Children's Hospital Affiliated to Suzhou University, Suzhou 215000, Jiangsu, China; 2.Department of Respiration, Second Affiliated Hospital of Suzhou University, Suzhou 215000, Jiangsu, China
  • Published:2020-02-03

摘要: 目的 探讨Prader-Willi综合征(PWS)儿童睡眠呼吸暂停综合征的特征。方法 回顾分析1例重度肥胖学龄 期PWS患儿无创呼吸机治疗前后的临床及多导睡眠监测资料,并通过关键词“PWS、阻塞性睡眠呼吸暂停综合征(OSAS)、 肥胖低通气综合征(OHS)、儿童”分别检索PubMed、万方、知网等数据库,收集1980-2018年有关PWS患者合并OSAS、 OHS的资料,分析其睡眠呼吸障碍的特征及影响因素。结果 10岁男性患儿,体质量60 kg,身高124 cm,BMI 39.02(>P97), 因咳嗽、口唇发绀入院。入院时神志清,呼吸40次/min,两肺呼吸音粗,可及干、湿啰音,四肢肌张力弱。血氧饱和度82%, 清醒状态下动脉血PCO2 115 mmHg。予气管插管、机械通气,联合抗感染治疗等控制病情后拔管撤机,清醒时指脉氧在 85%~92%,有频繁呼吸暂停、脉氧下降;整夜多导睡眠监测示呼吸暂停低通气指数31.7次/h,最低脉氧46%,提示重度睡 眠呼吸暂停综合征、重度低氧血症。结论 PWS患儿的睡眠呼吸障碍是一个复杂的并发症,可合并重度睡眠呼吸暂停综 合征、肥胖低通气综合征。多导睡眠监测对其诊断及鉴别中具有重要作用。无创呼吸机治疗有效。

关键词:  Prader-Willi综合征; 多导睡眠监测; 阻塞性睡眠呼吸暂停综合征; 肥胖低通气综合征; 无创呼吸机治疗

Abstract:  Objective To explore the characteristics of sleep apnea syndrome in Prader-Willi syndrome (PWS) in children. Methods The clinical features and polysomnography of a severe obese school-age child with PWS before and after non-invasive positive pressure ventilator were retrospective analyzed. The key words of "PWS, obstructive sleep apnea syndrome (OSAS), obesity hypoventilation syndrome (OHS) and children" were searched in the databases of PubMed, WanFang and CNKI from 1980 to 2018 for the data of PWS patients with OSAS and OHS. The characteristics and influencing factors of sleep apnea were analyzed. Results A 10-year-old boy with a body weight of 60 kg, height of 124 cm and BMI of 39.02 (> P97) was admitted to the hospital due to cough and cyanosis of lips. At admission, he was conscious, and took 40 breaths / min. His breathing sounds in both lungs were coarse, with dry and wet rales, and muscle tone in his limbs was weak. The blood oxygen saturation was 82%, and the arterial PCO2 in waking state was 115 mmHg. After endotracheal intubation and mechanical ventilation, combined with anti-infection treatment, the condition was controlled, and then the ventilator was removed. The SpO2 in conscious state was 85%~92%. Nocturnal apnea and hypoxia happened frequently. All night polysomnography showed that apnea hypopnea index was 31.7 times per hour, and the lowest pulse oxygen was 46%, indicating severe sleep apnea syndrome and severe hypoxemia. Conclusions Sleep breathing disorder in PWS is complex complication which can be combined with severe sleep apnea syndrome and OHS. Polysomnography plays an important role in its diagnosis and differentiation. Noninvasive ventilator treatment is effective.

Key words:  Prader-Willi syndrome; polysomnography; obstructive sleep apnea syndrome; obesity hypoventilation