摘要
目的 探讨婴儿Citrin缺陷病的临床特征和诊治方法.方法 对我院2009年4月至2010年4月应用气相色谱-质谱法进行尿有机酸分析和（或）基因检测确诊的15例婴儿Citrin缺陷病临床资料进行分析.结果 14例患儿均生后2～10d内发病,1例1个月后发病;病程1～6月.主要表现有皮肤黄染、肝脏增大,实验室检查血总胆红素、直接胆红素、胆汁酸、丙氨酸氨基转移酶、γ-谷氨酰转移酶、血氨、乳酸及甲胎蛋白均增高,部分凝血时间延长、血脂异常;气相色谱-质谱法显示半乳糖、半乳糖醇及4-羟基苯乳酸增高;Citrin缺陷基因阳性6例,13例合并巨细胞病毒感染.经去乳糖饮食及补充维生素A、D、K等,1～2周症状好转,6例半年后随访临床症状完全消失.结论 婴儿Citrin缺陷病起病早,临床表现缺乏特异性,气相色谱-质谱法尿有机酸分析和去乳糖饮食有助于确诊本病.
Objective To analyze the clinical characteristics and treatment outcome of citrin deficiengc in infants. Methods The clinical data of 15 patients with citrin deficiengcy were analyzed retrospectively and the diagnoses were confirmed by gas chromatography-mass spectrometry（GC/MS）. Results The patients consisted of 9 male and 6 female infants,whose age of onset ranged from 2 to 10 days excepted 1 case later than one month. The main clinical manifestations were jaundice and swelling liver,laboratory data showed increased total and direct bilirubin,bile acid,alanine aminotransferase,γ-glutamyltransferase,blood ammonia,lactic acid and α-fetoprotein;7 paitients had prolongation of prothrombin time and 9 had dyslipidaemia;G C/MS analysis of urine samples showed elevated galactose ,galactitol and 4 - hydroxyl phenyllactic acid;citrin gene were positive in 6 cases ,cytomegalovirus infections were found in 13 cases. After the therapy of fat-soluble vitamins（A,D and K）and lactose free formula,the jaundice relieved rapidly and dispeared within 2 weeks in all cases. The 6-month follow-up data showed no symptoms in 6 cases. Conclusions The clinical manifestations of citrin deficiengcy are nonspecific,GC/MS and lactose free formula treatment can be used to confirm the diagnosis.
出处
《中国综合临床》
2010年第11期1221-1223,共3页
Clinical Medicine of China
