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先天性非溶血性黄疸的研究进展

鲁杰 李武 刘叶

鲁杰, 李武, 刘叶. 先天性非溶血性黄疸的研究进展[J]. 临床肝胆病杂志, 2021, 37(1): 216-220. DOI: 10.3969/j.issn.1001-5256.2021.01.048
引用本文: 鲁杰, 李武, 刘叶. 先天性非溶血性黄疸的研究进展[J]. 临床肝胆病杂志, 2021, 37(1): 216-220. DOI: 10.3969/j.issn.1001-5256.2021.01.048
LU J, LI W, LIU Y. Research advances in congenital non-hemolytic jaundice [J]. J Clin Hepatol, 2021, 37(1): 216-220. DOI: 10.3969/j.issn.1001-5256.2021.01.048
Citation: LU J, LI W, LIU Y. Research advances in congenital non-hemolytic jaundice [J]. J Clin Hepatol, 2021, 37(1): 216-220. DOI: 10.3969/j.issn.1001-5256.2021.01.048

先天性非溶血性黄疸的研究进展

DOI: 10.3969/j.issn.1001-5256.2021.01.048
基金项目: 

云南省自然科学基金 2009CD087

国家十二五科技重大专项协助课题 2012ZX10002003

云南省科技厅-昆明医科大学联合基金重点项目 2017FE468〔-173〕

详细信息
    作者简介:

    鲁杰(1994—),女,主要从事肝纤维化的基础和临床研究

    通讯作者:

    李武,liwukm@126.com

  • 作者贡献声明:鲁杰负责课题设计,资料分析,撰写论文;李武负责拟定写作思路,指导撰写文章并最后定稿; 刘叶参与收集数据,修改论文。
  • 中图分类号: R575

Research advances in congenital non-hemolytic jaundice

  • 摘要: 先天性非溶血性黄疸是黄疸性疾病中的一大类,除母乳性黄疸外,临床上相对罕见,多属遗传代谢类肝病,包括以非结合性胆红素升高为主的Gilbert综合征、Crigler-Najjar综合征、Lucey-Driscoll综合征,和以结合胆红素升高为主的Dubin-Johnson综合征、Rotor综合征等。回顾近期国内外文献,主要就六种遗传性先天性非结合性黄疸的发病机制、基因特点、诊治进展及鉴别诊断进行综述。
  • 表  1  先天性非溶血性黄疸的常见鉴别诊断

    疾病名称 病因机制 遗传方式 主要临床表现 治疗
    GS、CNS Ⅱ型 UGT1A1突变,肝细胞对胆红素醛酸化障碍 常染色体隐/显性 轻、中度的间歇、波动性黄疸 对症治疗(苯巴比妥等)
    CNS Ⅰ型 UGT1A1突变,肝细胞对胆红素醛酸化障碍 常染色体隐/显性 重度黄疸、胆红素脑病 血浆置换、肝移植、光疗
    Lucey-Driscoll综合征 机制不清(孕激素对新生儿UGT1A1抑制作用) 常染色体隐性 出生后重度黄疸、胆红素脑病 血浆置换、肝移植、光疗
    母乳性黄疸 UGT1A1突变、母乳、肠道菌群等多重因素作用 轻、中度黄疸 继续母乳喂养或改配方奶粉
    DJS ABCC2基因突变,肝细胞对胆红素排泄障碍 常染色体隐性 轻、中度的间歇、波动性黄疸,可伴胆汁淤积 熊去氧胆酸等对症治疗
    RS SLCO1B1、SLCO1B3基因突变,肝细胞对胆红素摄取障碍 常染色体隐性 轻、中度的间歇、波动性黄疸等 对症治疗
    Alagille综合征 JAG1或NOTCH2基因突变,NOTCH信号通路缺陷 常染色体显性 新生儿胆汁淤积、心血管异常、角膜后胚胎环、骨骼异常和特殊面容等 多学科联合治疗、胆汁分流术、肝移植[37]
    进行性家族性肝内胆汁淤积症(PFIC)/良性复发性肝内胆汁淤积症(BRIC) PFIC1或BRIC1:ATP8B1基因突变
    PFIC2或BRIC2:ABCB11基因突变
    PFIC3:ABCB4突变
    PFIC4:TJP2突变
    PFIC5:NR1H4突变
    PFIC6:MYO5B突变
    常染色体隐性 持续性黄疸、瘙痒、白陶土样便、生长发育障碍、脂溶性维生素缺乏等 药物治疗(熊去氧胆酸、利福平、4-苯基丁酸酯、补充脂溶性维生素等)手术引流、肝移植[38]
    Citrin缺陷病(新生儿肝内胆汁淤积症) SLC25A13基因突变,肝细胞利用葡萄糖、脂肪酸障碍 常染色体隐性 新生儿胆汁淤积、脂肪肝、低蛋白血症、凝血障碍、肝大、肝功能异常等 补充中链甘油三酯等对症治疗[39]
    先天性胆汁酸合成缺陷疾病 HSD3B7、AKR1D1、CYP7B1等基因突变,胆汁酸合成障碍 常染色体隐性 新生儿胆汁淤积、凝血功能障碍或脂溶性维生素吸收不良等 早期补充初级胆汁酸、肝移植[40]
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  • 收稿日期:  2020-06-27
  • 修回日期:  2020-08-31
  • 刊出日期:  2021-01-18
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