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

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

安徽省儿童医院消化科，合肥 230051

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。

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

通信作者:
吴成，wucheng0706@126.com

中图分类号: R575; R722.17
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- 文章访问数: 430
- HTML全文浏览量: 208
- PDF下载量: 34
- 被引次数: 0
出版历程
- 收稿日期: 2020-07-30
- 录用日期: 2020-09-22
- 出版日期: 2021-02-20

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

Department of Gastroenterology, Anhui Provincial Children's Hospital, Hefei 230051, China

摘要

- 黄疸, 新生儿 /
- 黄瘤病, 脑腱性 /
- 基因检测
- Jaundice, Neonatal /
- Xanthomatosis, Cerebrotendinous /
- Genetic Testing

HTML全文

图 1 Sanger测序验证CYP27A1基因的复合杂合性变异

下载: 全尺寸图片幻灯片

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

参考文献(16)

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