CAJ | 학술논문

目的：分析遗传代谢病类婴儿肝炎综合征（IHS）的临床特点。方法收集遗传代谢病类 IHS 患儿的临床资料，归纳分析其症状与体征、并发症、实验室及辅助检查结果、尿气相色谱-质谱（GC-MS）及血串联质谱（MS ／MS）分析结果、诊断、治疗与转归。结果10例遗传代谢病类IHS 患儿中，体格检查均见皮肤及巩膜存在不同程度黄染。10例均有并发症，其中贫血9例、巨细胞病毒感染4例、EB 病毒感染2例。10例总胆红素、直接胆红素、AST、胆汁酸、甲胎蛋白、乳酸均升高。低血糖3例，低蛋白血症6例，代谢性酸中毒3例，凝血功能异常9例。经尿 GC-MS、血 MS ／MS 检测结合患儿临床特点、实验室检查及辅助检查结果，最终确诊该10例为遗传代谢病类 IHS，其中半乳糖血症2例，Citrin 缺陷导致的新生儿肝内胆汁淤积症（NICCD）4例，丙酸血症1例，尿素循环障碍、瓜氨酸血症1例，尿素循环障碍、有机酸尿症1例，酪氨酸血症1例。其中1例 NICCD 行SLC25A13基因测序结果为 c.851854delGTAT p.（Met285Ts）。10例患儿确诊后均以丁二磺酸腺苷蛋氨酸、熊去氧胆酸护肝治疗及对因治疗，经治疗8例患儿黄疸减轻，好转出院。2例患儿放弃治疗。结论遗传代谢病类 IHS 患儿有持续性重度黄疸且多有代谢性酸中毒、低血糖、高乳酸、高血氨、高甲胎蛋白、低蛋白血症等，尿 GC-MS 及血 MS ／MS 分析对其诊断具有重要意义，该类患儿确诊后应立即针对病因进行相应的治疗。
목적：분석유전대사병류영인간염종합정（IHS）적림상특점。방법수집유전대사병류 IHS 환인적림상자료，귀납분석기증상여체정、병발증、실험실급보조검사결과、뇨기상색보-질보（GC-MS）급혈천련질보（MS ／MS）분석결과、진단、치료여전귀。결과10례유전대사병류IHS 환인중，체격검사균견피부급공막존재불동정도황염。10례균유병발증，기중빈혈9례、거세포병독감염4례、EB 병독감염2례。10례총담홍소、직접담홍소、AST、담즙산、갑태단백、유산균승고。저혈당3례，저단백혈증6례，대사성산중독3례，응혈공능이상9례。경뇨 GC-MS、혈 MS ／MS 검측결합환인림상특점、실험실검사급보조검사결과，최종학진해10례위유전대사병류 IHS，기중반유당혈증2례，Citrin 결함도치적신생인간내담즙어적증（NICCD）4례，병산혈증1례，뇨소순배장애、과안산혈증1례，뇨소순배장애、유궤산뇨증1례，락안산혈증1례。기중1례 NICCD 행SLC25A13기인측서결과위 c.851854delGTAT p.（Met285Ts）。10례환인학진후균이정이광산선감단안산、웅거양담산호간치료급대인치료，경치료8례환인황달감경，호전출원。2례환인방기치료。결론유전대사병류 IHS 환인유지속성중도황달차다유대사성산중독、저혈당、고유산、고혈안、고갑태단백、저단백혈증등，뇨 GC-MS 급혈 MS ／MS 분석대기진단구유중요의의，해류환인학진후응립즉침대병인진행상응적치료。
Objective To analyze the clinical characteristics of infantile hepatitis syndrome (IHS)in infants with inherited metabolic diseases.Methods Clinical data of IHS infants complicated with inherited metabolic diseases were obtained.Relevant symptoms,physical signs,complications,laboratory and auxiliary test outcomes,gas chromatography-mass spectrometry (GC-MS)and tandem mass spectrometry analysis re-sults,diagnosis,treatment and clinical prognosis were recorded and analyzed.Results Physical examination revealed yellow skin and sclera in 1 0 cases.All infants presented with complications,including anemia in nine cases,cytomegalovirus (CMV)infection in four infants and epstein-barr virus (EBV)infection in two infants.Elevated levels of total bilirubin,direct bilirubin,AST,bile acid,alpha fetal protein and lactic acid were found in all 1 0 infants had.Three infants presented with hypoglycemia,six with hypoproteinemia,three with metabolic acidosis and nine with coagulation disorders.Based upon the urine GC-MS,blood MS /MS,clinical characteristics,laboratory and auxiliary examination outcomes,1 0 infants were eventually diagnosed with inher-ited metabolic diseases complicated with IHS including two cases of galactosemia,four cases of neonatal intra-hepatic cholestasis induced by Citrin deficiency,one case of acidaemia,one case of urea circulatory disorders and citrullinemia,one case of urea circulatory disorders and organic aciduria and one case of tyrosinemia.One NICCD infant had a SLC25A1 3 gene sequence of c.851 854delGTAT p.(Met285Ts).After diagnosis was confirmed,all infants received ademetionine 1 ,4-butanedisulfonate and ursodesoxycholic acid therapy.Eight infants had alleviated jaundice and were discharged,and the other two abandoned the treatment.Conclusions Infants with inherited metabolic diseases complicated with IHS had persistent and severe jaundice,and con-stantly complicated with metabolic acidosis,hypoglycemia,hyperlactatemia,hyperammonemia,high level of alpha fetal protein and hypoproteinemia,etc.Urine GC-MS and blood MS /MS were of diagnostic significance.Effective therapy should be delivered immediately after the diagnosis is confirmed.