摘要
目的报告先天性中枢性低通气综合征(congenital central hypoventilation syndrome,CCHS)1例,并复习文献,加强对该病的了解,提高诊治水平。方法对1例CCHS患儿的起病特点、主要临床表现、辅助检查结果、诊断及治疗等进行总结、分析。结果患儿,男,足月,胎儿宫内窘迫,生后半小时以青紫、反应差入院,呼吸机辅助通气后症状改善,但自主呼吸慢,反复发生高碳酸血症,难以撤机,患儿在清醒期自主呼吸正常,睡眠期呼吸暂停,且对于二氧化碳升高及血氧饱和度下降无反应,家长要求放弃治疗后死亡。结论CCHS在新生儿期发病以呼吸机依赖为主要表现,且生后表现需与新生儿窒息相互鉴别,需完善排他性检查,行PHOX2B基因检测,早诊断,早治疗。
Objective To report a case of congenital central hypopnea syndrome(CCHS),and review the literature,strengthen the understanding of the disease,improve the level of diagnosis and treatment.Methods The onset characteristics,main clinical manifestations,auxiliary examination results,diagnosis and treatment of 1 case of CCHS were summarized and analyzed.Results The child,male,full-term,fetal distress,was admitted to hospital half an hour after birth with cyanosis and poor reaction.After ventilator-assisted ventilation,symptoms improved,but spontaneous breathing was slow,hypercapnia occurred repeatedly,it was difficult to withdraw.The child had normal spontaneous breathing in awake period,apnea during sleep period,and there was no response to the increase of carbon dioxide and the decrease of blood oxygen saturation.The child died after parents asked to give up treatment.Conclusion Ventilator dependence is the main manifestation of CCHS in the neonatal period,and the postnatal manifestations need to be identified with neonatal asphyxia.It is necessary to improve the exclusive examination,check the Phox2b gene,early diagnosis and early treatment.
作者
葛琪琦
郭晓婷
杨坤
周磊磊
宋玉娥
GE Qi-qi;GUO Xiao-ting;YANG Kun;ZHOU Lei-lei;SONG Yu-e(Department of Neonatology,the First Affiliated Hospital of Baotou Medical College,Inner Mongolia Medical University,Baotou,Inner Mongolia 014010)
出处
《智慧健康》
2021年第11期104-105,108,共3页
Smart Healthcare
