• 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

Two neonates with Bartter syndrome.

作者信息

Afzal Tehreem, Fatima Sana, Shirazi Iqtada Haider, Halim Alia

机构信息

Children hospital, Pakistan Institute of Medical Sciences, Islamabad.

出版信息

J Pak Med Assoc. 2018 Nov;68(11):1721-1723.

PMID:30410160
Abstract

Bartter syndrome is an autosomal recessive disorder caused by gene mutations that involve hypokalaemia, hypochloraemia and metabolic alkalosis along with raised serum renin, hyperaldosteronism and normal blood pressure. We report two cases of neonatal Bartter syndrome. Case 1 was a product of non-consanguineous marriage and mother had unexplained polyhydramnios in pregnancy while case 2 was a product of consanguineous marriage. Both cases were diagnosed based on hypokalaemia, hypochloraemia and metabolic alkalosis along with elevated serum renin and aldosterone levels. Case 1 positively responded to indomethacin while case 2 had Protein C and S deficiency and sepsis as coexisting diseases and thus could not be given indomethacin and expired. Regular antenatal visits can help in diagnosis of the syndrome particularly if unexplained poly hydramniosis investigated .

摘要

相似文献

1
Two neonates with Bartter syndrome.
J Pak Med Assoc. 2018 Nov;68(11):1721-1723.
2
[Bartter syndrome and pseudo-Bartter syndrome--a case report].[巴特综合征与假性巴特综合征——一例报告]
Z Urol Nephrol. 1986 Jan;79(1):19-27.
3
Prenatal diagnosis of Bartter syndrome.巴特综合征的产前诊断。
Prenat Diagn. 1994 Oct;14(10):996-8. doi: 10.1002/pd.1970141017.
4
A Rare Disorder with Common Clinical Presentation: Neonatal Bartter Syndrome.一种临床表现常见的罕见疾病:新生儿巴特综合征。
J Coll Physicians Surg Pak. 2015 Apr;25 Suppl 1:S58-60.
5
Pseudo-Bartter syndrome in an infant with congenital chloride diarrhoea.一名患有先天性氯腹泻的婴儿的假性巴特综合征。
Srp Arh Celok Lek. 2011 Sep-Oct;139(9-10):677-80.
6
Diagnosis of antenatal Bartter syndrome.产前巴特综合征的诊断。
Clin Exp Obstet Gynecol. 2016;43(3):453-4.
7
[Chronization by indomethacin of the circadian rhythm of blood renin and aldosterone in a case of Bartter's syndrome].[吲哚美辛对巴特综合征患者血肾素和醛固酮昼夜节律的同步作用]
Minerva Urol Nefrol. 1985 Jan-Mar;37(1):23-7.
8
Antenatal Bartter syndrome: a new compound heterozygous mutation in exon 2 of KCNJ1 gene.产前巴特综合征:KCNJ1 基因外显子 2 的新复合杂合突变。
BMJ Case Rep. 2021 Oct 18;14(10):e244685. doi: 10.1136/bcr-2021-244685.
9
Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone.巴特综合征的产前诊断:羊水醛固酮。
Ann Biol Clin (Paris). 2017 Apr 1;75(2):204-208. doi: 10.1684/abc.2017.1229.
10
Biochemical examination of mother's urine is useful for prenatal diagnosis of Bartter syndrome.
Prenat Diagn. 1999 Jul;19(7):671-3. doi: 10.1002/(sici)1097-0223(199907)19:7<671::aid-pd571>3.0.co;2-o.

引用本文的文献

1
Genetic background of neonatal hypokalemia.新生儿低钾血症的遗传背景。
Pediatr Nephrol. 2025 Feb;40(2):301-317. doi: 10.1007/s00467-024-06492-5. Epub 2024 Sep 16.