成人Alagille综合征1例报告

平大冰; 刘洪亮; 胡旭东; 袁继丽; 刘成海

doi:10.3969/j.issn.1001-5256.2019.10.034

成人Alagille综合征1例报告

DOI: 10.3969/j.issn.1001-5256.2019.10.034

1. 上海中医药大学附属曙光医院肝病研究所
2. 上海中医药大学基础医学院生物教研室
3. 上海市中医临床重点实验室
4. 上海中医健康服务协同创新中心

基金项目:

上海市中医药三年行动计划(ZY-(2018-2020)-CCCX-5001)；

详细信息

中图分类号: R575
计量
- 文章访问数: 1071
- HTML全文浏览量: 18
- PDF下载量: 256
- 被引次数: 0
出版历程
- 出版日期: 2019-10-20

Diagnosis and treatment of adult Alagille syndrome:A case report

Institute of Hepatology,Shuguang Hospital Affiliated to Shanghai University of Traditional Chinese Medicine

Research funding:

摘要

摘要: <正>1病例资料患者女性,22岁,因体检发现肝功能异常3年,于2018年8月8日以"肝功能异常"收入本院。患者2015年于当地医院体检发现ALT增高,服用保肝药(不详)后好转。2018年8月7日于本院体检再次发现肝功能异常:ALT 173 U/L,AST 117U/L,ALP 374 U/L,GGT 1474 U/L,尿酸417μmol/L,TG 5. 11mmol/L(表1);甲、乙、丙、丁、戊型肝炎标志物均阴性;肝脏彩超示:非均匀性脂肪肝。入院症状:乏力,纳可,夜寐安,二便
- Alagille综合征 /
- 成人 /
- 胆汁淤积
- Alagille syndrome /
- adult /
- cholestasis

HTML全文

参考文献(12)

[1] ALAGILLE D,ODIEVRE M,GAUTIER M,et al. Hepatic ductular hypoplasia associated with characteristic facies,vertebral malformations,retarded physical,mental,and sexual development,and cardiac murmur[J]. Pediatr,1975,86(1):63-71.

[2] LEONARD LD,CHAO G,BAKER A,et al. Clinical utility gene card for:Alagille syndrome(ALGS)[J]. Eur J Hum Genet,2014,22(3):e1-e4.

[3] GROCHOWSKI CM,LOOMES KM,SPINNER NB. Jagged1(JAG1):Structure,expression,and disease associations[J]. Gene,2016,576(1 Pt 3):381-384.

[4] MA YL,SONG YZ. Advances in the diagnosis and treatment of Alagille syndrome[J]. Chin J Contemp Pediatr,2014,16(11):1188-1192.(in Chinese)马艳立,宋元宗. Alagille综合征诊断治疗进展[J].中国当代儿科杂志,2014,16(11):1188-1192.

[5] ZHANG W,ZHAO XY,HUANG J,et al. Alagille syndrome:An uncommon cause of intrahepatic cholestasis in adults[J].Rev Esp Enferm Dig,2019,111(4):323-326.

[6] KAMATH BM. Alagille syndrome[M]//SUCHY FJ,SOKAL RJ,BALISTRERI WF,et al. Liver disease in children. 3rd ed.New York:Cambridge University Press,2007:326-345.

[7] GURU MURTHY GS,RANA BS,DAS A,et al. Alagille syndrome:A rare disease in an adolescent[J]. Dig Dis Sci,2012,57(11):3035-3057.

[8] TURNPENNY PD,ELLARD S. Alagille syndrome:Pathogenesis,diagnosis and management[J]. Eur J Hum Genet,2012,20(3):251-257.

[9] MOZER-GLASSBERG Y,HOJSAK I,ZEVIT N,et al. Pruritus responsive to naltrexone in a patient with cholestatic liver disease[J]. Isr Med Assoc J,2011,13(2):111-112.

[10] LI H,LIU JJ,DENG M,et al. Clinical and genetic study of an infant with Alagille syndrome:Identification of a novel chromosomal interstitial deletion including JAG1 gene[J]. Chin J Contemp Pediatr,2017,19(10):1098-1103.(in Chinese)李华,刘佳佳,邓梅,等. Alagille综合征患儿1例临床和遗传学分析:一个包含JAG1基因的染色体新中间缺失的识别[J].中国当代儿科杂志,2017,19(10):1098-1103.

[11] LI L,DONG J,WANG X,et al. JAG1 mutation spectrum and origin in Chinese children with clinical features of Alagille syndrome[J]. PLo S One,2015,10(6):e130355.

[12] HU H,YANG YC,ZHANG H,et al. Alagille syndrome in a child combined with hepatocellular carcinoma:A case report and literature review[J]. J Clin Pediat,2017,35(4):253-255.(in Chinese)胡会,杨永臣,张泓,等. Alagille综合征合并肝细胞癌1例报告并文献复习[J].临床儿科杂志,2017,35(4):253-255.

施引文献

资源附件(0)

访问统计