以肝硬化腹腔积液为特征表现的Citrin蛋白缺陷所致新生儿肝内胆汁淤积症1例报告

张建玲; 舒赛男; 蔡在胜; 罗小平; 董琛

doi:10.3969/j.issn.1001-5256.2019.02.026

以肝硬化腹腔积液为特征表现的Citrin蛋白缺陷所致新生儿肝内胆汁淤积症1例报告

DOI: 10.3969/j.issn.1001-5256.2019.02.026

华中科技大学同济医学院附属同济医院儿科

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中图分类号: R722.1
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出版历程
- 出版日期: 2019-02-20

Neonatal intrahepatic cholestasis caused by Citrin deficiency with hepatic cirrhosis ascites as the main manifestation:A case report

Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology

摘要

摘要: <正>Citrin蛋白缺陷引起的新生儿肝内胆汁淤积症（neonatal intrehepatic cholestasis caused by Cirtin deficiency,NICCD）是编码Citrin蛋白SLC25A13基因突变引起的常染色体隐性遗传病[1-2],其主要临床表现为婴儿（包括新生儿）肝内胆汁淤积。以肝细胞黄疸、肝功能异常、肝肿大和肝脂肪变性、肝细胞及毛细胆管淤胆为特征,部分NICCD患儿在肝内胆汁淤积消失后可
- 肝硬化 /
- 腹水 /
- 突变 /
- 病例报告
- liver cirrhosis /
- ascites /
- mutation /
- case reports

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参考文献(10)

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[5]YASUDA T, YAMAGUCHI N, KOBAYASHI K, et al.Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type IIcitrullinemia[J].Hum Genet, 2000, 107 (6) :537-545.

[6]KOBAYASHI K, SINASAC DS, IIJIMA M, et al.The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein[J].Nat Genet, 1999, 22 (2) :159-163.

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[8]ZHANG ZH, LIN WX, DENG M, et al.Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) [J].PLo SOne, 2014, 9 (2) :e89267.

[9]JIANG GY, CHENG ZM, LIU KS.Neonatal intrahepatic cholestasis caused by citrin deficiency:A histopathologic study of 10 cases[J].Chin J Pathol, 2012, 41 (7) :452-455. (in Chinese) 蒋光愉, 程兆明, 刘凯珊.新生儿citrin缺陷肝内胆汁淤积症的肝脏病理组织学观察[J].中华病理学杂志, 2012, 41 (7) :452-455.

[10]KIMURA A, KAGE M, NAGATA I, et al.Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency[J].Hepatol Res, 2010, 40 (4) :295-303.

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