先天性中枢性低通气综合征1例并文献复习

Congenital central hypoventilation syndrome in a Chinese infant and literature review

目的提高对先天性中枢性低通气综合征(CCHS)的临床和基因特征的认识。方法总结分析1例CCHS患儿的临床表现、诊断和基因检测结果,并进行文献复习。结果男,7月龄。以肺部感染、撤机困难入院。入院肺部感染基本控制撤机后,患儿睡眠状态下出现呼吸浅慢,再次予机械通气,模式为双水平正压通气。患儿觉醒时呼吸活跃,入睡后依赖呼吸机,自主呼吸减慢,潮气量减小,出现CO2储留。同时相关辅助检查排除了原发心、肺、脑、神经肌肉及代谢性疾病,临床诊断为CCHS。取患儿及其父母静脉血行PHOX2B基因序列检测,显示患儿PHOX2B第3外显子存在突变(基因型为20/25),其父母未检出突变,确诊为CCHS。患儿随访至11月龄,呼吸和循环情况尚平稳。结论 CCHS以觉醒时有充足通气,睡眠状态下通气不足为主要表现,行PHOX2B基因突变分析可确诊CCHS。

Objective Congenital central hypoventilation syndrome （CCHS） is a rare autosomal dominant disorder characterized by failure in the autonomic control of breathing. Methods The clinical data of this patient were collected. The PHOX2B gene was analyzed by DNA sequecing in patient and his parents who were known with CCHS. Results According to the clinical data, this patient typically presented hypoventilation during sleeping, without any associated primary cardiac, pulmonary, neuromuscular or brainstem lesions, or any metabolic diseases. DNA sequencing of the PHOX2B gene showed expanded alleles containing polyalanine 25 repeats in the patient. Conclusions According to the clinical and genetic diagnosis, this patient presented CCHS. DNA sequencing of the PHOX2B gene identified a mutation in exon 3 （ genotype of 20/25 ） in the patient but not in his parents.