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遗传性球形红细胞增多症合并Gilbert综合征1例报告

张玉姣 郑英 王秀红 蔡颖 马安林

引用本文:
Citation:

遗传性球形红细胞增多症合并Gilbert综合征1例报告

DOI: 10.3969/j.issn.1001-5256.2022.04.029
基金项目: 

国家重点研发计划“主动健康和老龄化科技应对”重点专项 (2020YFC2004803)

伦理学声明:本例报告已获得患者知情同意。
利益冲突声明:所有作者均声明不存在利益冲突。
作者贡献声明:张玉姣、郑英参与病例资料分析并起草文章; 王秀红、蔡颖、马安林参与修改文章关键内容。
详细信息
    通信作者:

    马安林,maanlinjc@163.com

Hereditary spherocytosis coexisting with Gilbert's syndrome: A case report

Research funding: 

National Key R & D Program of China (2020YFC2004803)

More Information
  • 图  1  患者外周血涂片(瑞氏染色,×1000)

    注:红色箭头示球形红细胞,表现为密集的球状红细胞,中央淡染区丢失;蓝色箭头示多染色性网织红细胞。

    Figure  1.  Peripheral blood smear (Wright's staining, ×1000)

    图  2  基因检测结果

    Figure  2.  Genetic testing results

    图  3  肝脏病理结果(HE染色,×400)

    注:中央静脉周围部分肝细胞内见脂褐素沉积。

    Figure  3.  Liver pathological results (hematoxylin-eosin staining, ×400)

  • [1] PERROTTA S, GALLAGHER P, MOHANDAS N. Hereditary spherocytosis[J]. Lancet, 2008, 372(9647): 1411-1426. DOI: 10.1016/s0140-6736(08)61588-3.
    [2] WAGNER KH, SHIELS RG, LANG CA, et al. Diagnostic criteria and contributors to Gilbert's syndrome[J]. Crit Rev Clin Lab Sci, 2018, 55(2): 129-139. DOI: 10.1080/10408363.2018.1428526.
    [3] 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.

    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.
    [4] KANG LL, LIU ZL, ZHANG HD. Gilbert's syndrome coexisting with hereditary spherocytosis might not be rare: Six case reports[J]. World J Clin Cases, 2020, 8(10): 2001-2008. DOI: 10.12998/wjcc.v8.i10.2001.
    [5] STRASSBURG CP, MANNS MP. Jaundice, genes and promoters[J]. J Hepatol, 2000, 33(3): 476-479. DOI: 10.1016/s0168-8278(00)80285-8.
    [6] MARUO Y, NAKAHARA S, YANAGI T, et al. Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type Ⅱ and Gilbert syndrome[J]. J Gastroenterol Hepatol, 2016, 31(2): 403-408. DOI: 10.1111/jgh.13071.
    [7] GU GX, ZONG ZP, ZHOU T, et al. Living related donor liver transplantation for infant with Crigler-Najjar syndrome type Ⅰ: A report of one case and literature review[J]. Ogran Transplant, 2020, 11(4): 471-476. DOI: 10.3969/j.issn.1674-7445.2020.04.008.

    顾广祥, 宗志鹏, 周韬, 等. 亲属活体肝移植治疗婴儿Crigler-Najjar综合征Ⅰ型1例并文献复习[J]. 器官移植, 2020, 11(4): 471-476. DOI: 10.3969/j.issn.1674-7445.2020.04.008.
    [8] BLACK M, BILLING BH. Hepatic bilirubin udp-glucuronyl transferase activity in liver disease and Gilbert's syndrome[J]. N Engl J Med, 1969, 280(23): 1266-1271. DOI: 10.1056/NEJM196906052802303.
    [9] BARCELLINI W, FATTIZZO B. Clinical applications of hemolytic markers in the differential diagnosis and management of hemolytic anemia[J]. Dis Markers, 2015, 2015: 635670. DOI: 10.1155/2015/635670.
    [10] ARIAS IM, GARTNER LM, COHEN M, et al. Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency. Clinical, biochemical, pharmacologic and genetic evidence for heterogeneity[J]. Am J Med, 1969, 47(3): 395-409. DOI: 10.1016/0002-9343(69)90224-1.
    [11] ZHANG M, WANG H, HUANG Y, et al. Compound heterozygous UGT1A1*28 and UGT1A1*6 or single homozygous UGT1A1*28 are major genotypes associated with Gilbert's syndrome in Chinese Han people[J]. Gene, 2021, 781: 145526. DOI: 10.1016/j.gene.2021.145526.
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  • 收稿日期:  2021-08-08
  • 出版日期:  2022-04-20
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