重度新生儿暂时性高氨血症2例及文献复习  

Severe neonatal transient hyperammonemia:a report of two cases and literature review

作　　者：霍小梅 龚小慧[1] 蔡成 洪文超 Huo Xiaomei;Gong Xiaohui;Cai Cheng;Hong Wenchao(Department of Neonatology,Shanghai Children's Hospital(Children's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine),Shanghai 200062,China)

机构地区：[1]上海市儿童医院(上海交通大学医学院附属儿童医院)新生儿科,上海200062

出　　处：《中华围产医学杂志》2023年第6期502-506,共5页Chinese Journal of Perinatal Medicine

摘　　要：目的探讨重度新生儿暂时性高氨血症(transient hyperammonemia of the newborn,THAN)的临床特点、治疗及预后。方法回顾性分析2021年9月和2022年8月上海市儿童医院收治的2例重度THAN患儿的临床资料。在万方数据库、中国知网数据库、中华医学期刊数据库和PubMed数据库中检索确诊THAN(血氨>400µmol/L)且有详细诊疗经过的文献,提取临床资料进行总结分析。对数据资料采用描述性统计分析。结果纳入文献12篇,共22例;连同本单位收治的2例,共24例重度THAN患儿。24例中,早产儿19例(79.2%),足月儿5例;出生体重(2237±608)g,发病时间为生后27 h(4~55 h);早期临床表现主要包括呼吸窘迫及反应低下(嗜睡、昏睡、昏迷、肌张力减低)各18例(75.0%)、代谢性酸中毒11例(45.8%)、低钙血症7例(29.2%)、瞳孔固定/散大6例(25.0%)、惊厥5例(20.8%)、呼吸暂停3例(12.5%)和窦性心动过缓1例(4.2%)。血氨1422.8μmol/L(547.2~4494.1µmol/L)。治疗方式包括腹膜透析+换血8例(33.3%)、换血7例(29.2%)、连续性肾脏替代治疗(continuous renal replacement therapy,CRRT)4例(16.7%)、应用精氨酸2例(8.3%)、腹膜透析2例(8.3%),以及CRRT+腹膜透析1例(4.2%)。随访年龄4月龄(1月龄~6岁),13例(54.2%)发育正常,2例(8.3%)发育迟缓,6例(25.0%)死亡。3例(12.5%)文献未报告随访情况。结论重度THAN早期临床表现不典型。尽早排除引起高氨血症相关遗传代谢性疾病,积极降低血氨,预后相对较好。患儿的神经系统结局需要长期随访。Objective To investigate the clinical features,treatment,and prognosis of transient hyperammonemia of the newborn(THAN).Methods Data of two infants with severe THAN admitted to the Department of Neonatology of Shanghai Children's Hospital in September 2021 and August 2022 were retrospectively investigated.Clinical data of confirmed THAN cases(blood ammonia>400μmol/L)were collected from relevant literature retrieved from the Wanfang Database,China National Knowledge Infrastructure,Chinese Medical Journal Database,and PubMed up to July 2022.A descriptive method was used for statistical analysis.Results A total of 24 cases were involved(two in the present study,and 22 in 12 retrieved articles),including 19(79.2%)premature newborns and five term infants.The average birth weight was(2237±608)g and the average onset time was 27 h(4-55 h)after birth.The early clinical symptoms included respiratory distress and hyporesponsiveness(drowsiness,lethargy,coma or hypotonia)in 18 cases(75.0%),metabolic acidosis in 11 cases(45.8%),hypocalcemia in seven cases(29.2%),pupil fixation/dilation in six cases(25.0%),convulsion in five cases(20.8%),apnea in three cases(12.5%)and sinus bradycardia in one case(4.2%).The serum ammonia levels were 1422.8µmol/L(547.2-4494.1µmol/L).Treatments included peritoneal dialysis plus exchange transfusion in eight cases(33.3%),exchange transfusion in seven cases(29.2%),continuous renal replacement therapy(CRRT)in four cases(16.7%),arginine in two cases(8.3%),peritoneal dialysis in two cases(8.3%),and CRRT+peritoneal dialysis in one case(4.2%).During follow-ups of four months(one month to six years),13 cases(54.2%)showed no abnormalities in development;two(8.3%)had a neurodevelopmental delay,and six(25.0%)died.The follow-up of the other three cases(12.5%)were not reported in the literature.Conclusions The early clinical manifestation of severe THAN is atypical.A good prognosis can be expected through early exclusion of possible hyperammonemia-related genetic metabolic diseases and lowering the serum

关 键 词：高氨血症 连续性肾替代疗法 腹膜透析 婴儿 新生 

分 类 号：R722.1[医药卫生—儿科]