中文English
ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R

留言板

尊敬的读者、作者、审稿人, 关于本刊的投稿、审稿、编辑和出版的任何问题, 您可以本页添加留言。我们将尽快给您答复。谢谢您的支持!

姓名
邮箱
手机号码
标题
留言内容
验证码

肝脾肿大伴β脂蛋白缺乏症1例报告

郭海军

引用本文:
Citation:

肝脾肿大伴β脂蛋白缺乏症1例报告

DOI: 10.3969/j.issn.1001-5256.2022.08.031
伦理学声明:本例报告已获得患者知情同意。
利益冲突声明:作者声明不存在利益冲突。
详细信息
    通信作者:

    郭海军,18631966153@163.com

Hepatosplenomegaly with β-lipoprotein deficiency: A case report

More Information
  • 图  1  肝脏MR检查结果

    注:a,T1WI;b,T2WI;c,动脉期;d,静脉期。

    Figure  1.  MR examination results of the liver

    图  2  肝脏病理结果(HE染色,×40)

    Figure  2.  Pathological results of the liver (HE staining, ×40)

    图  3  外周血涂片检查(瑞氏染色,×1000)

    Figure  3.  Peripheral blood smear examination (Wright staining, ×1000)

  • [1] YOUNG SG. Recent progress in understanding apolipoprotein B[J]. Circulation, 1990, 82(5): 1574-1594. DOI: 10.1161/01.cir.82.5.1574.
    [2] MEHTA A, SHAPIRO MD. Apolipoproteins in vascular biology and atherosclerotic disease[J]. Nat Rev Cardiol, 2022, 19(3): 168-179. DOI: 10.1038/s41569-021-00613-5.
    [3] BURNETT JR, BELL DA, HOOPER AJ, et al. Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB)[J]. Eur J Hum Genet, 2012, 20(8): e1-e3. DOI: 10.1038/ejhg.2012.85.
    [4] TANOLI T, YUE P, YABLONSKIY D, et al. Fatty liver in familial hypobetalipoproteinemia: roles of the APOB defects, intra-abdominal adipose tissue, and insulin sensitivity[J]. J Lipid Res, 2004, 45(5): 941-947. DOI: 10.1194/jlr.M300508-JLR200.
    [5] OHASHI K, ISHIBASHI S, OSUGA J, et al. Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia[J]. J Lipid Res, 2000, 41(8): 1199-1204.
    [6] TAKAHASHI M, OKAZAKI H, OHASHI K, et al. Current diagnosis and management of abetalipoproteinemia[J]. J Atheroscler Thromb, 2021, 28(10): 1009-1019. DOI: 10.5551/jat.RV17056.
    [7] SIRWI A, HUSSAIN MM. Lipid transfer proteins in the assembly of apoB-containing lipoproteins[J]. J Lipid Res, 2018, 59(7): 1094-1102. DOI: 10.1194/jlr.R083451.
    [8] WELTY FK. Hypobetalipoproteinemia and abetalipoproteinemia: liver disease and cardiovascular disease[J]. Curr Opin Lipidol, 2020, 31(2): 49-55. DOI: 10.1097/MOL.0000000000000663.
    [9] COHEN JC, BOERWINKLE E, MOSLEY TH Jr, et al. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease[J]. N Engl J Med, 2006, 354(12): 1264-1272. DOI: 10.1056/NEJMoa054013.
    [10] TARUGI P, LONARDO A. Heterozygous familial hypobetalipoproteinemia associated with fatty liver[J]. Am J Gastroenterol, 1997, 92(8): 1400-1402.
    [11] WELTY FK. Hypobetalipoproteinemia and abetalipoproteinemia[J]. Curr Opin Lipidol, 2014, 25(3): 161-168. DOI: 10.1097/MOL.0000000000000072.
    [12] BURNETT JR, HOOPER AJ. Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia[J]. Free Radic Biol Med, 2015, 88(Pt A): 59-62. DOI: 10.1016/j.freeradbiomed.2015.05.044.
    [13] LEE J, HEGELE RA. Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management[J]. J Inherit Metab Dis, 2014, 37(3): 333-339. DOI: 10.1007/s10545-013-9665-4.
    [14] BREDEFELD C, PERETTI N, HUSSAIN MM, et al. New classification and management of abetalipoproteinemia and related disorders[J]. Gastroenterology, 2021, 160(6): 1912-1916. DOI: 10.1053/j.gastro.2020.11.040.
  • 加载中
图(3)
计量
  • 文章访问数:  281
  • HTML全文浏览量:  101
  • PDF下载量:  45
  • 被引次数: 0
出版历程
  • 收稿日期:  2021-09-12
  • 录用日期:  2022-01-04
  • 出版日期:  2022-08-20
  • 分享
  • 用微信扫码二维码

    分享至好友和朋友圈

目录

    /

    返回文章
    返回