妊娠剧吐致双胎新生儿假性巴特综合征  

Neonatal pseudo-Bartter syndrome caused by maternal hyperemesis gravidarum:analysis of a twins

作　　者：房军臣 范丽莉[1] 夏耀方[1] 陈新 张玉东 马莉[1] Junchen Fang;Lili Fan;Yaofang Xia;Xin Chen;Yudong Zhang;Li Ma(Department of Neonatology,Hebei Children's Hospital,Shijiazhuang 050031,China)

机构地区：[1]河北省儿童医院新生儿科,石家庄050031

出　　处：《中华围产医学杂志》2023年第11期946-949,共4页Chinese Journal of Perinatal Medicine

摘　　要：目的总结妊娠剧吐所致新生儿假性巴特综合征的临床表现、治疗和转归。方法回顾性分析2022年9月河北省儿童医院新生儿科收治的一对双胎假性巴特综合征患儿的临床资料,总结病例特点。采用描述性统计分析。结果双胎早产儿,出生胎龄30周+3,生后因早产、呼吸窘迫均需气管插管机械通气治疗,并于生后2 h转运至本院。患儿母亲有妊娠剧吐,产前3 d仍呕吐明显且伴低钾血症。2例患儿生后2 h血气分析均提示严重代谢性碱中毒,低钠、低钾、低氯、高乳酸血症,生后6 h出现高血糖,生后24 h出现皮肤硬肿。血、尿串联质谱分析未见明显异常,全外显子组测序未检出与表型相关的基因异常,故诊断假性巴特综合征。经对症支持治疗,2例患儿均在生后4 d代谢性碱中毒及电解质紊乱完全纠正,生后51 d治愈出院,此后病情无反复;生后11月龄随访,患儿体格及神经系统发育均未见异常。结论母亲妊娠剧吐可导致新生儿假性巴特综合征,表现为生后早期出现严重代谢紊乱及呼吸、循环功能障碍,如能及时诊断治疗,通常预后良好。Objective To summarize the clinical manifestations,treatment and outcome of neonatal pseudo-Bartter syndrome caused by maternal hyperemesis gravidarum.Methods This retrospective study collected the clinical data of a set of premature twins with pseudo-Bartter syndrome who were admitted to Hebei Children's Hospital in September 2022.Clinical features of the cases were summarized with descriptive analysis.Results The twins born with a gestational age of 30+3 weeks required tracheal intubation and mechanical ventilation due to premature birth and respiratory distress.They were transferred to our hospital 2 h after birth.The mother suffered from hyperemesis gravidarum and even had severe vomiting complicated by hypokalemia 3 d before delivery.The blood gas analysis of the twins at 2 h after birth showed severe metabolic alkalosis,hyponatremia,hypokalemia,hypochloremia and hyperlactatemia.Hyperglycemia appeared at 6 h after birth,and scleredema neonatorum at 24 h after birth.No significant abnormalities were found in the tandem mass spectrometer analysis of blood or urine samples.Whole-exome sequencing showed no abnormalities in the genes related to the phenotype.The twins were diagnosed with neonatal pseudo-Bartter syndrome.After symptomatic and supportive treatment,metabolic alkalosis and electrolyte disorders in the twins were completely resolved 4 d after birth.They were cured and discharged 51 d after birth without recurrence.Follow-up revealed no abnormalities in the physical or neurological development of the twins at 11 months after birth.Conclusions Maternal hyperemesis gravidarum can lead to neonatal pseudo-Bartter syndrome,characterized by severe metabolic disorders as well as respiratory and circulatory dysfunction at the early stage after birth.Timely diagnosis and treatment are conducive to good prognosis in the affected neonates.

关 键 词：妊娠剧吐 巴特综合征 双生 婴儿 新生 碱中毒 

分 类 号：R714.23[医药卫生—妇产科学]