遗传代谢病类婴儿肝炎综合征的临床分析

摘要

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。%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.