• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

相似文献

1
Intractable neonatal jaundice due to hereditary spherocytosis and Gilbert's syndrome.遗传性球形红细胞增多症和吉尔伯特综合征所致的难治性新生儿黄疸。
BMJ Case Rep. 2011 Jul 28;2011:bcr0520114293. doi: 10.1136/bcr.05.2011.4293.
2
Hereditary spherocytosis coexisting with Gilbert's syndrome: a diagnostic dilemma.遗传性球形红细胞增多症与吉尔伯特综合征并存:诊断难题。
Singapore Med J. 2008 Nov;49(11):e308-9.
3
Gilbert's syndrome co-existing with and masking hereditary spherocytosis.吉尔伯特综合征与遗传性球形红细胞增多症并存并掩盖后者。
Ann Hematol. 1997 Jun;74(6):287-9. doi: 10.1007/s002770050302.
4
A Case of hereditary spherocytosis coexisting with Gilbert's syndrome.一例遗传性球形红细胞增多症与吉尔伯特综合征并存的病例。
Korean J Gastroenterol. 2013 Mar 25;61(3):166-9. doi: 10.4166/kjg.2013.61.3.166.
5
Extreme hyperbilirubinemia in a patient with hereditary spherocytosis, Gilbert's syndrome, and obstructive jaundice.一名患有遗传性球形红细胞增多症、吉尔伯特综合征和梗阻性黄疸的患者出现极重度高胆红素血症。
Am J Med Sci. 1978 May-Jun;275(3):373-9. doi: 10.1097/00000441-197805000-00016.
6
A Novel SPTA1 Mutation in a Patient with Hereditary Spherocytosis without a Family History and Coexisting Gilbert's Syndrome.一名遗传性球形红细胞增多症患者存在新型 SPTA1 突变,且无家族史并合并吉尔伯特综合征。
Intern Med. 2023 Jan 1;62(1):107-111. doi: 10.2169/internalmedicine.9478-22. Epub 2022 May 31.
7
Genetic interactions in the pathogenesis of neonatal hyperbilirubinemia: Gilbert's Syndrome and glucose-6-phosphate dehydrogenase deficiency.新生儿高胆红素血症发病机制中的基因相互作用:吉尔伯特综合征与葡萄糖-6-磷酸脱氢酶缺乏症
J Perinatol. 2001 Dec;21 Suppl 1:S30-4; discussion S35-9. doi: 10.1038/sj.jp.7210630.
8
[Gilbert's syndrome in patients with splenomegaly].[脾肿大患者的吉尔伯特综合征]
Arq Gastroenterol. 1982 Oct-Dec;19(4):187-9.
9
A case of concomitant Gilbert's syndrome and hereditary spherocytosis.一例吉尔伯特综合征合并遗传性球形红细胞增多症。
Korean J Hepatol. 2010 Sep;16(3):321-4. doi: 10.3350/kjhep.2010.16.3.321.
10
Bile bilirubin pigment analysis in disorders of bilirubin metabolism in early infancy.早期婴儿胆红素代谢紊乱时胆汁胆红素色素分析
Arch Dis Child. 2001 Jul;85(1):38-42. doi: 10.1136/adc.85.1.38.

引用本文的文献

1
A Case of Adult Hereditary Spherocytosis Concomitant with Gilbert Syndrome Caused by Mutations in SPTB and UGT1A1.一例由SPTB和UGT1A1突变引起的成人遗传性球形红细胞增多症合并吉尔伯特综合征
J Inflamm Res. 2024 Sep 4;17:5977-5983. doi: 10.2147/JIR.S483493. eCollection 2024.
2
Gilbert's syndrome coexisting with hereditary spherocytosis might not be rare: Six case reports.吉尔伯特综合征与遗传性球形红细胞增多症并存可能并不罕见:六例病例报告。
World J Clin Cases. 2020 May 26;8(10):2001-2008. doi: 10.12998/wjcc.v8.i10.2001.
3
A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates.儿科医生诊断和治疗新生儿遗传性球形红细胞增多症实用指南。
Pediatrics. 2015 Jun;135(6):1107-14. doi: 10.1542/peds.2014-3516.

本文引用的文献

1
Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis.吉尔伯特综合征的共同遗传增加了遗传性球形红细胞增多症患者患胆结石的风险。
Blood. 1999 Oct 1;94(7):2259-62.
2
UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis.UGT1启动子多态性导致遗传性球形红细胞增多症新生儿发病率增加。
Blood. 1998 Feb 1;91(3):1093.
3
Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome.胆红素UDP-葡萄糖醛酸基转移酶基因启动子的遗传变异与吉尔伯特综合征
Lancet. 1996 Mar 2;347(9001):578-81. doi: 10.1016/s0140-6736(96)91273-8.
4
The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome.吉尔伯特综合征中胆红素UDP-葡萄糖醛酸基转移酶1表达降低的遗传基础。
N Engl J Med. 1995 Nov 2;333(18):1171-5. doi: 10.1056/NEJM199511023331802.

遗传性球形红细胞增多症和吉尔伯特综合征所致的难治性新生儿黄疸。

Intractable neonatal jaundice due to hereditary spherocytosis and Gilbert's syndrome.

作者信息

Ismail Abdul Qader Tahir, Gandhi Anjum, El-Shimy Nagui

机构信息

Paediatrics Department, Good Hope Hospital, Birmingham, West Midlands, UK.

出版信息

BMJ Case Rep. 2011 Jul 28;2011:bcr0520114293. doi: 10.1136/bcr.05.2011.4293.

DOI:10.1136/bcr.05.2011.4293
PMID:22689841
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3149415/
Abstract

In this article the authors present a case of pathological neonatal jaundice resistant to phototherapy in a baby with a family history of Gilbert's syndrome and hereditary spherocytosis. Her presentation was ultimately explained with a diagnosis of both conditions, and required treatment with phenobarbitone. The authors discuss the mechanism by which Gilbert's syndrome results in hyperbilirubinaemia and its similarities with Crigler-Najjar syndrome. The presentation of hereditary spherocystosis in the neonatal period is also explored, as is the mechanism of exaggerated hyperbilirubinaemia when the two conditions co-exist.

摘要

在本文中,作者介绍了一名患有吉尔伯特综合征和遗传性球形红细胞增多症家族史的婴儿,其病理性新生儿黄疸对光疗耐药。最终通过对这两种疾病的诊断解释了她的症状表现,并需要使用苯巴比妥进行治疗。作者讨论了吉尔伯特综合征导致高胆红素血症的机制及其与克里格勒 - 纳贾尔综合征的相似之处。还探讨了遗传性球形红细胞增多症在新生儿期的表现,以及这两种疾病共存时高胆红素血症加重的机制。