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以胆汁淤积性黄疸发病的新生儿脑腱黄瘤病1例报告

张茂燕 李林 吴成

张茂燕, 李林, 吴成. 以胆汁淤积性黄疸发病的新生儿脑腱黄瘤病1例报告[J]. 临床肝胆病杂志, 2021, 37(2): 411-413. DOI: 10.3969/j.issn.1001-5256.2021.02.034
引用本文: 张茂燕, 李林, 吴成. 以胆汁淤积性黄疸发病的新生儿脑腱黄瘤病1例报告[J]. 临床肝胆病杂志, 2021, 37(2): 411-413. DOI: 10.3969/j.issn.1001-5256.2021.02.034
ZHANG MY, LI L, WU C. Neonatal cerebrotendinous xanthomatosis with cholestatic jaundice as the initial manifestation: A case report[J]. J Clin Hepatol, 2021, 37(2): 411-413. DOI: 10.3969/j.issn.1001-5256.2021.02.034
Citation: ZHANG MY, LI L, WU C. Neonatal cerebrotendinous xanthomatosis with cholestatic jaundice as the initial manifestation: A case report[J]. J Clin Hepatol, 2021, 37(2): 411-413. DOI: 10.3969/j.issn.1001-5256.2021.02.034

以胆汁淤积性黄疸发病的新生儿脑腱黄瘤病1例报告

DOI: 10.3969/j.issn.1001-5256.2021.02.034
详细信息
    作者简介:

    张茂燕(1969—),女,主任医师,主要从事消化道疾病的临床研究

    通讯作者:

    吴成,wucheng0706@126.com

  • 作者贡献声明:张茂燕负责资料分析,撰写论文;李林参与收集整理数据;吴成指导撰写论文并最后定稿。
  • 中图分类号: R575; R722.17

Neonatal cerebrotendinous xanthomatosis with cholestatic jaundice as the initial manifestation: A case report

  • 图  1  Sanger测序验证CYP27A1基因的复合杂合性变异

    表  1  患儿就诊及随访的血生化检查结果

    检查日期 TBil/DBil(μmol/L) ALT/AST(U/L) ALP/GGT(U/L) TBA(μmol/L) TCH(mmol/L)
    2019年3月17日 244.1/135.7 31.0/36.0 258/57 45.6 2.87
    2019年3月25日 110.2/87.2 68.0/59.0 218/51 40.5 2.08
    2019年4月1日 62.0/51.0 127.0/57.0 257/83 56.7 2.80
    2019年5月5日 56.2/40.3 100.5/52.1 208/59 38.0 3.00
    2019年6月10日 53.7/41.5 86.4/45.1 185/48 42.1 2.94
    2019年8月15日 45.8/34.3 60.5/50.5 217/50 43.3 2.75
    2019年11月30日 38.2/22.9 45.3/39.5 190/43 35.9 2.21
    2020年3月6日 22.4/12.6 38.0/34.8 178/45 35.0 2.45
    2020年7月10日 18.5/7.2 40.3/33.5 185/402
    注:TCH,血清总胆固醇。
    下载: 导出CSV
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    郭红梅, 李玫, 金玉, 等. CYP27A1基因突变致脑黄腱瘤1例报告并文献复习[J]. 临床儿科杂志, 2017, 35(11): 841-843. DOI: 10.3969/j.issn.1000-3606.2017.11.010
    [8] ZHANG XY, LU Y. Cerebrotendinous xanthomatosis: A case report and literature review[J]. Chin J Evid Based Pediatr, 2016, 11(3): 210-214. (in Chinese) DOI: 10.3969/j.issn.1673-5501.2016.03.010

    张雪媛, 陆怡. 脑腱黄瘤病1例病例报告并文献复习[J]. 中国循证儿科杂志, 2016, 11(3): 210-214. DOI: 10.3969/j.issn.1673-5501.2016.03.010
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    [11] RICHARDS S, AZIZ N, BALE S, et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015, 17(5): 405-424. DOI: 10.1038/gim.2015.30
    [12] KLIEGMAN R, NELSON WE. Nelson textbook of pediatrics[M]. 19th ed. Philadelphia, PA: Elsevier/Saunders, 2011.
    [13] SHIGA K, FUKUYAMA R, KIMURA S, et al. Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis[J]. J Neurol Neurosurg Psychiatry, 1999, 67(5): 675-677. DOI: 10.1136/jnnp.67.5.675
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    [15] FEDERICO A, DOTTI MT. Cerebrotendinous xanthomatosis: Clinical manifestations, diagnostic criteria, pathogenesis, and therapy[J]. J Child Neurol, 2003, 18(9): 633-638. DOI: 10.1177/08830738030180091001
    [16] PIERRE G, SETCHELL K, BLYTH J, et al. Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy[J]. J Inherit Metab Dis, 2008, 31(Suppl 2): s241-s245.
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出版历程
  • 收稿日期:  2020-07-30
  • 修回日期:  2020-09-22
  • 刊出日期:  2021-02-20
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