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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

引用本文:
Citation:

成人Alagille综合征1例报告

DOI: 10.3969/j.issn.1001-5256.2019.10.034
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

Diagnosis and treatment of adult Alagille syndrome:A case report

Research funding: 

 

  • 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

     

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    [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.
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    [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.
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    [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.
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  • 出版日期:  2019-10-20
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