无创双水平正压通气治疗先天性中枢性低通气综合征1例并文献复习

Non-invasive bi-level airway pressure ventilation for central hypoventilation syndrome:a case report and literature review

目的应用无创双水平正压通气(BiPAP)治疗先天性中枢性低通气综合征(CCHS)1例的成功经验,并复习文献,以提高对该病的认识和临床诊疗水平。方法对1例确诊为CCHS的患儿的临床资料和无创通气治疗情况进行总结,并结合文献资料进行分析。结果患儿生后当天以呼吸困难起病,呈现明显睡眠时通气障碍,反复撤机困难,基因检测证实存在Phox2b基因突变,确诊为CCHS。予以无创BiPAP治疗,经皮血氧饱和度及TCO_2维持良好,患儿于3个月顺利出院,继续家庭无创通气。随访至今已4个月,生长发育良好。结论无创BiPAP可为CCHS患儿提供有效的呼吸支持,可避免既往气管切开带来的诸多不良后果。

Objectives To report an infant with central hypoventilation syndrome treated by non-invasive bi-level airway pressure ventilation and review the related literature.Methods Clinical data of an infant with CCHS treated by BiPAP and the related literature were collected and analyzed.Results A female infant showed a significant dyspnea after birth and obviously ventilator impairment in sleep,with repeated weaning failure.A PHOX2B mutation was indentified in this baby and confirmed as CCHS.She was supported by non-invasive BiPAP with normal pulse oximetry(SpO_2)and transcutaneous partial pressure of carbon dioxide(TcpCO_2).The infant was discharged home at 3 months of age with non-invasive BiPAP and showed normal development after 4 months of follow up.Conclusion Non-invasive BiPAP is one of the effective methods in the treatment of CCHS and can avoid the adverse consequences caused by tracheotomy.