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目的探讨Citrin缺陷导致的新生儿肝内胆汁淤积症(NICCD)患儿的临床表现和实验室检查特点。方法选取2008年1月-2009年12月就诊于深圳市儿童医院的30例黄疸患儿(结合胆红素及未结合胆红素均升高,以结合胆红素升高为主),经常规实验室检查,结合尿气相色谱质谱分析、基因检测诊断为NICCD。对确诊患儿的临床表现、常规实验室检查、尿异常代谢产物、基因检测等进行分析。结果 30例NICCD患儿中93%(28/30例)患儿γ-谷氨酰转肽酶升高、43%(13/30例)患儿ALT升高、80%(24/30例)患儿AST升高、57%(17/30例)患儿ALP升高,4例存在低清蛋白血症,20例部分活化的凝血酶原时间延长,70%(21/30例)的患儿并巨细胞病毒感染。23例有高氨血症,97%(29/30例)的患儿甲胎蛋白升高。尿气相色谱质谱(GC-MS)分析显示28例(93%)患儿半乳糖增高,1例丝氨酸/苏氨酸比例倒置,1例丙氨酸及苏氨酸升高,6例并4-羟基苯乳酸增高。确诊后给予去乳糖饮食,所有患儿治疗1周黄疸明显消退,血总胆红素降低50%以上。结论以结合胆红素升高为主的黄疸患儿鉴别诊断应考虑到NICCD,确诊后应早期给予饮食干预;合并巨细胞病毒感染的病例较多见,需注意区分何种因素占主导地位,必要时联合更昔洛韦抗病毒治疗。
Objective To investigate the clinical features and laboratory features of neonatal intrahepatic cholestasis (NICCD) caused by Citrin deficiency. Methods Thirty children with jaundice (both elevated bilirubin and unconjugated bilirubin and elevated bilirubin) in Shenzhen Children’s Hospital from January 2008 to December 2009 were selected. Routine laboratory tests, combined with urine gas chromatography mass spectrometry, and genetic tests diagnosed as NICCD. The diagnosis of children with clinical manifestations, routine laboratory tests, abnormal urine metabolites, genetic testing were analyzed. Results Elevated γ-glutamyl transpeptidase was found in 93 (28/30) infants with NICCD and in 43 (13/30) infants, 80% (24/30) Children with AST increased, 57% (17/30 cases) children with elevated ALP, 4 cases of hypoalbuminemia, 20 cases of partially activated prothrombin time, 70% (21/30 cases) Children and cytomegalovirus infection. 23 cases had hyperammonemia, 97% (29/30 cases) of children with elevated alpha-fetoprotein. Urinary Gas Chromatography-Mass Spectrometry (GC-MS) analysis showed that galactose increased in 28 patients (93%), one patient had a serine / threonine upside down, one patient had elevated alanine and threonine, Hydroxybenzene lactic acid increased. After the diagnosis given to lactose diet, all children treated 1 week jaundice significantly subsided, blood total bilirubin decreased by 50%. Conclusions NICCD should be considered in the differential diagnosis of jaundice in patients with elevated bilirubin, and dietary intervention should be given early after diagnosis. Cases with CMV infection are more common, and it is necessary to pay attention to what kind of factors dominates, If necessary, combined with ganciclovir antiviral therapy.