先天性中枢性低通气综合征四例临床研究

目的 研究先天性中枢性低通气综合征（congenital central hypoventilation syndrome,CCHS）的临床特征,提高对CCHS的认识,以便早期诊断和治疗,提高临床诊疗水平.方法 分析2012年4月至2013年6月收治的反复青紫、高碳酸血症、撤机失败的4例患儿临床资料,经过相关检查,除外可导致低通气的心、肺、神经肌肉功能障碍原发病,并行CCHS主要致病遗传基因Phox2b检测,结合文献,对照CCHS诊断标准.结果 4例患儿均有CCHS典型临床特征：清醒时有足够的通气,睡眠时呼吸频率减慢,通气不足,出现青紫、高碳酸血症,对低通气所致的高碳酸血症和低氧血症无觉醒反应.基因检测均证实存在Phox2b基因突变,2例经予以无创通气治疗,l例3个月大时顺利出院,继续家庭无创通气,1例1个月时出院,家庭监护治疗,随访至今,均生长发育良好.结论 对于持续存在的睡眠状态下通气不足、反复高碳酸血症、撤机失败,而无心、肺、神经肌肉功能障碍原发病,需考虑CCHS,Phox2b基因检测可作为CCHS的重要诊断手段,无创通气治疗可为CCHS患儿提供有效的呼吸支持.

Clinical study of congenital central hypoventilation syndrome in four cases

Objective This study aimed to explore the clinical characteristics and treatment of congenital central hypoventilation syndrome（CCHS）,to raise awareness on the CCHS for early diagnosis and treatment.Methods The clinical data of 4 babies with CCHS were analyzed,all of the babies were repeated bruising,hypercapnia,and difficult-to-wean.After the relevant checks,we precluded the primary diseases of heart,lung and neuromuscular dysfunction that lead to low ventilation,and detected the major pathogenic genes,Phox2b of CCHS,refer to literature and diagnostic criteria of CCHS.Results Four babies all had typical clinical features of CCHS：enough ventilation when awake.But when they were asleep,their respiratory rate slowed down,hypoventilation,cyanosis and hypercapnia appeared,and they can not be awaked by hypercapnia and hypoxemia caused by hypoventilation.Genetic testing confirmed the presence of Phox2b mutations.Two infants were supported by non-invasive biphasic positive airway pressure（BiPAP）,an infant was discharged home at 3 months of age with non-invasive BiPAP,and an infant was discharged home at 1 month of age.Both of them were monitored and treated at home,and showed normal development.Conclusion For babies who were repeated bruising,hypercapnia,and difficult-to-wean,but no primary diseases of heart,lung and neuromuscular dysfunction that lead to low ventilation,CCHS must be considered.Genetic testing of Phox2b can be used as an important diagnostic tool,and non-invasive BiPAP is one of the efficacious methods in the treatment of CCHS.