婴儿希特林(Citrin)蛋白缺乏症4例临床分析  

Clinic analysis on 4 infantile Citrin deficiency cases

作　　者：汪小霞 于飞[1] WANG Xiao-xia;YU Fei(Department of Endocrine and Genetic Metabolism in Children,Hubei Maternal and Child Health Care Hospital,Wuhan,Hubei 430070,China)

机构地区：[1]湖北省妇幼保健院儿童内分泌遗传代谢科,武汉430070

出　　处：《中国优生与遗传杂志》2018年第7期131-132,138,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的了解婴儿希特林蛋白缺乏症为婴儿胆汁淤积症的一种类型,进一步提高婴儿胆汁淤积症与希特林蛋白缺乏症的认识,对患儿采取更有效的治疗及判定患儿预后。方法湖北省妇幼保健院儿童内分泌遗传代谢科2016年7月-2017年10月以"婴儿胆汁淤积症"收住院的患儿最后确诊"婴儿希特林蛋白缺乏症"的4例,分析其病史特点、相关检查检验结果,诊疗经过及后期随诊。结果单纯希特林蛋白缺乏症患儿经对症治疗,临床症状明显缓解,肝功能各项指标可逐渐恢复正常。结论对于没有外科情况及明确炎症感染所致的婴儿胆汁淤积症患儿,需早期完善血尿串联质谱及相关基因检查明确病因,一般婴儿希特林蛋白缺乏症患儿预后良好。Objective：To understand infant Citrin deficiency as a type of infantile cholestasis,and further improve the understanding of infantile cholestasis and Citrin deficiency,provide more effective treatment and prognosis for children. Methods：4 cases of infantile cholestasis hospitalized patients finally diagnosed infantile baby Citrin deficiency in department of Endocrine and Genetic Metabolism in Children of Hubei Maternal and Child Health Care Hospital,analyzes the characteristics of medical history,the relevant test results,after treatment and after follow-up. Results：Infant with simple Citrin deficiency syndrome are treated with symptomatic treatment,the clinical symptoms are obviously relieved,and the indexes of liver function can be gradually restored to normal. Conclusion：To infants without cholestasis caused by surgical condition and clear infection,early hematuria,tandem mass spectrometry and related gene examination should be perfected to identify the cause. Infants with Citrin deficiency usually have good prognosis.

关 键 词：希特林蛋白缺乏症 胆汁淤积症 婴儿 治疗 预后 

分 类 号：R725.8[医药卫生—儿科]