中文English
ISSN 1001-5256
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

4例先天性胆汁酸合成障碍2型患儿的临床特征及遗传学分析

姜涛 欧阳文献 谭艳芳 唐莲 张慧 李双杰

姜涛, 欧阳文献, 谭艳芳, 等. 4例先天性胆汁酸合成障碍2型患儿的临床特征及遗传学分析[J]. 临床肝胆病杂志, 2021, 37(8): 1898-1900. DOI: 10.3969/j.issn.1001-5256.2021.08.029
引用本文: 姜涛, 欧阳文献, 谭艳芳, 等. 4例先天性胆汁酸合成障碍2型患儿的临床特征及遗传学分析[J]. 临床肝胆病杂志, 2021, 37(8): 1898-1900. DOI: 10.3969/j.issn.1001-5256.2021.08.029
JIANG T, OUYANG WX, TAN YF, et al. Clinical features and genetic analysis of congenital bile acid synthesis disorder type 2 in four children[J]. J Clin Hepatol, 2021, 37(8): 1898-1900. DOI: 10.3969/j.issn.1001-5256.2021.08.029
Citation: JIANG T, OUYANG WX, TAN YF, et al. Clinical features and genetic analysis of congenital bile acid synthesis disorder type 2 in four children[J]. J Clin Hepatol, 2021, 37(8): 1898-1900. DOI: 10.3969/j.issn.1001-5256.2021.08.029

4例先天性胆汁酸合成障碍2型患儿的临床特征及遗传学分析

DOI: 10.3969/j.issn.1001-5256.2021.08.029
详细信息
    通讯作者:

    李双杰,lesjie62@vip.sina.com

  • 中图分类号: R575

Clinical features and genetic analysis of congenital bile acid synthesis disorder type 2 in four children

  • 表  1  4例CBAS2患儿入院后初次肝功能指标检查结果

    病例 TBil
    (μmol/L)
    DBil
    (μmol/L)
    总蛋白
    (g/L)
    Alb
    (g/L)
    ALT
    (U/L)
    AST
    (U/L)
    TBA
    (μmol/L)
    GGT
    (U/L)
    例1 137.0 71.2 53.8 32.9 175.6 197.8 2.4 27.0
    例2 238.7 224.8 53.4 36.3 623.4 437.8 9.5 40.7
    例3 302.0 184.8 62.0 42.6 396.5 681.4 8.9 42.0
    例4 230.8 179.8 58.1 43.8 362.4 413.8 5.5 62.0
    正常值 3.4~17.0 0~6 55~80 35~55 0~40 0~40 0~9.67 0~50
    下载: 导出CSV

    表  2  4例CBAS2患儿基因变异情况

    病例 染色体位置 核苷酸改变 氨基酸改变 合子状态 来源 文献报道 突变类型
    例1 chr7:137761334 c.70G>C p.G24R 杂合 错义
    例1 chr7:137761359 c.93+2T>C 杂合 剪切位点
    例2 chr7:137792268 c.797G>A p.R266Q 纯合 父母 错义
    例3 chr7:137791341 c.580-13T>A 杂合 剪切位点
    例3 chr7:137792268 c.797G>A p.R266Q 杂合 错义
    例4 chr7:137790177 c.579+2_579+4delinsA 杂合 剪切位点
    例4 chr7:137792268 c.797G>A p.R266Q 杂合 新发 错义
    注:“—”表示无。
    下载: 导出CSV
  • [1] HEUBI JE, SETCHELL KD, BOVE KE. Inborn errors of bile acid metabolism[J]. Semin Liver Dis, 2007, 27(3): 282-294. DOI: 10.1055/s-2007-985073.
    [2] SETCHELL KD, SUCHY FJ, WELSH MB, et al. Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis[J]. J Clin Invest, 1988, 82(6): 2148-2157. DOI: 10.1172/JCI113837.
    [3] LIU JQ, ZHOU SM, ZHOU JL, et al. A case of congenital bile acid synthesis disorder type 2 and literature review[J]. Chin J Med Genetics, 2018, 35(5): 691-693. DOI: 10.3760/cma.j.issn.1003-9406.2018.05.016.

    刘嘉琪, 周少明, 周建利, 等. 一例先天性胆汁酸合成障碍2型患儿的临床及遗传学分析[J]. 中华医学遗传学杂志, 2018, 35(5): 691-693. DOI: 10.3760/cma.j.issn.1003-9406.2018.05.016.
    [4] SHE LH, LI XF, YE JW, et al. Clinical features and gene variation of congenital bile acid synthesis disorder type 2 in 8 children[J]. J Clin Pediatr, 2020, 38(12): 936-939. DOI: 10.3969/j.issn.1000-3606.2020.12.013.

    佘兰辉, 李旭芳, 叶家卫, 等. 先天性胆汁酸合成障碍2型8例临床特征及基因变异分析[J]. 临床儿科杂志, 2020, 38(12): 936-939. DOI: 10.3969/j.issn.1000-3606.2020.12.013.
    [5] CHEN JY, WU JF, KIMURA A, et al. AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases[J]. Pediatr Neonatol, 2020, 61(1): 75-83. DOI: 10.1016/j.pedneo.2019.06.009.
    [6] AL-HUSSAINI AA, SETCHELL K, ALSALEEM B, et al. Bile acid synthesis disorders in arabs: A 10-year screening study[J]. J Pediatr Gastroenterol Nutr, 2017, 65(6): 613-620. DOI: 10.1097/MPG.0000000000001734.
    [7] LI M, JIN Y. Genetic diagnosis and treatment of inherited metabolic-related jaundice[J]. Chin Pediatr Emerg Med, 2020, 27(7): 486-489. DOI: 10.3760/cma.j.issn.1673-4912.2020.07.002.

    李玫, 金玉. 遗传性代谢相关性黄疸的基因诊断和治疗[J]. 中国小儿急救医学, 2020, 27(7): 486-489. DOI: 10.3760/cma.j.issn.1673-4912.2020.07.002.
    [8] JAHNEL J, ZÖHRER E, FISCHLER B, et al. Attempt to determine the prevalence of two inborn errors of primary bile acid synthesis: Results of a European survey[J]. J Pediatr Gastroenterol Nutr, 2017, 64(6): 864-868. DOI: 10.1097/MPG.0000000000001546.
    [9] HEUBI JE, SETCHELL K, BOVE KE. Inborn errors of bile acid metabolism[J]. Clin Liver Dis, 2018, 22(4): 671-687. DOI: 10.1016/j.cld.2018.06.006.
    [10] FANG LJ, WANG JS. Congenital bile acid synthesis defect and cholestatic liver disease[J]. J Clin Hepatol, 2010, 26(6): 585-588. DOI: 10.3969/j.issn.1001-5256.2010.06.007.

    方玲娟, 王建设. 先天性胆汁酸合成障碍与胆汁淤积性肝病[J]. 临床肝胆病杂志, 2010, 26(6): 585-588. DOI: 10.3969/j.issn.1001-5256.2010.06.007.
    [11] DAUGHERTY CC, SETCHELL KD, HEUBI JE, et al. Resolution of liver biopsy alterations in three siblings with bile acid treatment of an inborn error of bile acid metabolism (delta 4-3-oxosteroid 5 beta-reductase deficiency)[J]. Hepatology, 1993, 18(5): 1096-1101.
    [12] DRURY JE, MINDNICH R, PENNING TM. Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency[J]. J Biol Chem, 2010, 285(32): 24529-24537. DOI: 10.1074/jbc.M110.127779.
    [13] LI AQ, DONG Y, XU ZQ, et al. Progressive familial intrahepatic cholestasis type 3: A report of two cases in one pedigree[J]. J Clin Hepatol, 2020, 36(7): 1601-1604. DOI: 10.3969/j.issn.1001-5256.2020.07.032.

    李爱芹, 董漪, 徐志强, 等. 进行性家族性肝内胆汁淤积症3型一家系2例报告[J]. 临床肝胆病杂志, 2020, 36(7): 1601-1604. DOI: 10.3969/j.issn.1001-5256.2020.07.032.
    [14] UEKI I, KIMURA A, CHEN HL, et al. SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency[J]. J Gastroenterol Hepatol, 2009, 24(5): 776-785. DOI: 10.1111/j.1440-1746.2008.05669.x.
    [15] CHENG Y, GUO L, DENG M, et al. Clinical feature and genetic analysis of a family affected by congenital bile acid synthesis defect type 2: Identification of 2 novel mutations in AKR1D1 gene[J]. Chin J Contemp Pediatr, 2017, 19(7): 734-740. DOI: 10.7499/j.issn.1008-8830.2017.07.002.

    程映, 郭丽, 邓梅, 等. 先天性胆汁酸合成障碍2型一家系临床和遗传学分析: 两个AKR1D1新突变的识别[J]. 中国当代儿科杂志, 2017, 19(7): 734-740. DOI: 10.7499/j.issn.1008-8830.2017.07.002.
    [16] ZHANG MH, SETCHELL KD, ZHAO J, et al. Δ4-3-oxosteroid-5β-reductase deficiency: Responses to oral bile acid therapy and long-term outcomes[J]. World J Gastroenterol, 2019, 25(7): 859-869. DOI: 10.3748/wjg.v25.i7.859.
    [17] NIKOLAOU N, ARVANITI A, APPANNA N, et al. Glucocorticoids regulate AKR1D1 activity in human liver in vitro and in vivo[J]. J Endocrinol, 2020, 245(2): 207-218. DOI: 10.1530/JOE-19-0473.
  • 加载中
表(2)
计量
  • 文章访问数:  39
  • HTML全文浏览量:  25
  • PDF下载量:  8
  • 被引次数: 0
出版历程
  • 收稿日期:  2021-01-18
  • 修回日期:  2021-02-15
  • 刊出日期:  2021-08-16
  • 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