• 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

低钾血症、低镁血症、低钙尿症及反复手足搐搦：一个中国家系中的吉特林综合征及文献复习

Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review.

作者信息

Xia Ming-Feng, Bian Hua, Liu Hong, Wu Hui-Juan, Zhang Zhi-Gang, Lu Zhi-Qiang, Gao Xin

机构信息

Department of Endocrinology and Metabolism Zhongshan Hospital Fudan University Shanghai China.

Department of Nephrology Zhongshan Hospital Fudan University Shanghai China.

出版信息

Clin Case Rep. 2017 Mar 17;5(5):578-586. doi: 10.1002/ccr3.874. eCollection 2017 May.

DOI:10.1002/ccr3.874
PMID:28469853
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5412754/
Abstract

Gitelman syndrome is an autosomal recessive disease mostly associated with loss-of-function mutations of the gene and featured by clinical hypokalemia, hypomagnesemia, hypocalciuria, and histologically hypertrophy of the juxtaglomerular apparatus. A novel homozygous mutation (p.Arg399Pro) at the extracellular domain of SLC12A3 was found and correlated with the severe clinical manifestations.

摘要

吉特曼综合征是一种常染色体隐性疾病，主要与该基因的功能丧失突变有关，其特征为临床低钾血症、低镁血症、低钙尿症以及组织学上的肾小球旁器肥大。在SLC12A3的细胞外结构域发现了一种新的纯合突变（p.Arg399Pro），且该突变与严重的临床表现相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4332/5412754/3d4c70d97d59/CCR3-5-578-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4332/5412754/9b80cfdb0c37/CCR3-5-578-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4332/5412754/6f9af1a39ac0/CCR3-5-578-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4332/5412754/3d4c70d97d59/CCR3-5-578-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4332/5412754/9b80cfdb0c37/CCR3-5-578-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4332/5412754/6f9af1a39ac0/CCR3-5-578-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4332/5412754/3d4c70d97d59/CCR3-5-578-g003.jpg

相似文献

1
Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review.低钾血症、低镁血症、低钙尿症及反复手足搐搦：一个中国家系中的吉特林综合征及文献复习
Clin Case Rep. 2017 Mar 17;5(5):578-586. doi: 10.1002/ccr3.874. eCollection 2017 May.
2
A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review.亚洲家系中吉特曼综合征的一种新型SLC12A3基因纯合突变及文献综述
J Endocrinol Invest. 2016 Mar;39(3):333-40. doi: 10.1007/s40618-015-0371-y. Epub 2015 Aug 11.
3
Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome.吉特曼综合征和类吉特曼综合征患者中SLC12A3和CLCNKB的突变及其与临床表型的相关性
J Korean Med Sci. 2016 Jan;31(1):47-54. doi: 10.3346/jkms.2016.31.1.47. Epub 2015 Dec 24.
4
A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree.吉特曼综合征家系中SLC12A3基因的一种新型复合杂合变异体。
BMC Med Genet. 2018 Jan 29;19(1):17. doi: 10.1186/s12881-018-0527-7.
5
Novel compound heterozygous variants of gene in a Chinese patient with Gitelman syndrome: a case report.一名中国吉特曼综合征患者中该基因的新型复合杂合变异：病例报告。
Front Genet. 2023 Jun 12;14:1067242. doi: 10.3389/fgene.2023.1067242. eCollection 2023.
6
A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia.一种新型 Gitelman 综合征伴低钙血症的 SLC12A3 纯合子 c2039delG 突变。
BMC Nephrol. 2018 Dec 17;19(1):362. doi: 10.1186/s12882-018-1163-3.
7
A novel compound heterozygous mutation of SLC12A3 gene in a pedigree with Gitelman syndrome and literature review.一个 Gitelman 综合征家系中 SLC12A3 基因的新型复合杂合突变及文献复习。
Genes Genomics. 2020 Sep;42(9):1035-1040. doi: 10.1007/s13258-020-00960-6. Epub 2020 Jul 25.
8
A case of hypokalemia and proteinuria with a new mutation in the SLC12A3 Gene.一例伴有SLC12A3基因新突变的低钾血症和蛋白尿病例。
BMC Nephrol. 2018 Oct 19;19(1):275. doi: 10.1186/s12882-018-1083-2.
9
Gitelman syndrome caused by a rare homozygous mutation in the gene: A case report.由该基因罕见纯合突变引起的吉特林综合征：一例报告。
World J Clin Cases. 2020 Sep 26;8(18):4252-4258. doi: 10.12998/wjcc.v8.i18.4252.
10
Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome.SLC12A3 和 CLCNKB 基因在一名患 Gitelman 综合征中国女孩中的双基因遗传。
BMC Pediatr. 2019 Apr 18;19(1):114. doi: 10.1186/s12887-019-1498-3.

引用本文的文献

1
Diagnosis and outpatient management of Gitelman syndrome from the first trimester of pregnancy.从妊娠早期开始的 Gitelman 综合征的诊断和门诊管理。
BMJ Case Rep. 2021 May 12;14(5):e241756. doi: 10.1136/bcr-2021-241756.
2
Clinical Characteristics and Gene Mutation Analysis of the Chinese Han Population with Gitelman Syndrome: 3 Case Reports and a Literature Review.中国汉族吉特林综合征患者的临床特征及基因突变分析：3例报告并文献复习
Case Rep Med. 2020 Oct 24;2020:6263721. doi: 10.1155/2020/6263721. eCollection 2020.
3
Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome.

本文引用的文献

1
A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review.亚洲家系中吉特曼综合征的一种新型SLC12A3基因纯合突变及文献综述
J Endocrinol Invest. 2016 Mar;39(3):333-40. doi: 10.1007/s40618-015-0371-y. Epub 2015 Aug 11.
2
NORMOMAGNESEMIC GITELMAN SYNDROME PATIENTS EXHIBIT A STRONGER REACTION TO THIAZIDE THAN HYPOMAGNESEMIC PATIENTS.正常镁血症的吉特曼综合征患者比低镁血症患者对噻嗪类药物的反应更强。
Endocr Pract. 2015 Sep;21(9):1017-25. doi: 10.4158/EP14432.OR. Epub 2015 Jun 29.
3
Identification of two novel mutations in SLC12A3 gene in two Chinese pedigrees with Gitelman syndrome and review of literature.
SLC12A3 基因在中国 Gitelman 综合征患者中的遗传分析。
Med Sci Monit. 2019 Aug 9;25:5942-5952. doi: 10.12659/MSM.916069.
4
Novel heterozygous missense mutation of gene in Gitelman syndrome: A case report.吉特曼综合征中基因的新型杂合错义突变：一例报告。
World J Clin Cases. 2019 Jun 26;7(12):1522-1528. doi: 10.12998/wjcc.v7.i12.1522.
5
Gitelman syndrome and primary hyperparathyroidism: a rare association.吉特曼综合征与原发性甲状旁腺功能亢进症：一种罕见的关联。
BMJ Case Rep. 2018 Jun 5;2018:bcr-2017-223663. doi: 10.1136/bcr-2017-223663.
两个中国吉特曼综合征家系中SLC12A3基因两个新突变的鉴定及文献复习
Clin Endocrinol (Oxf). 2015 Dec;83(6):985-93. doi: 10.1111/cen.12820. Epub 2015 Jun 15.
4
Coexistence of Graves' Disease in a 14-year-old young girl with Gitelman Syndrome.一名14岁患有吉特曼综合征的年轻女孩同时患有格雷夫斯病。
Clin Endocrinol (Oxf). 2015 Dec;83(6):995-7. doi: 10.1111/cen.12800. Epub 2015 May 7.
5
A pedigree analysis of two homozygous mutant Gitelman syndrome cases.两例纯合突变型吉特曼综合征病例的系谱分析
Endocr J. 2015;62(1):29-36. doi: 10.1507/endocrj.EJ14-0289. Epub 2014 Oct 2.
6
SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information.SWISS-MODEL：利用进化信息进行蛋白质三级和四级结构建模。
Nucleic Acids Res. 2014 Jul;42(Web Server issue):W252-8. doi: 10.1093/nar/gku340. Epub 2014 Apr 29.
7
Clinical severity of Gitelman syndrome determined by serum magnesium.由血清镁水平决定的吉特曼综合征的临床严重程度。
Am J Nephrol. 2014;39(4):357-66. doi: 10.1159/000360773. Epub 2014 Apr 23.
8
Gitelman syndrome.吉特曼综合征
BMJ Case Rep. 2013 Apr 11;2013:bcr2013009095. doi: 10.1136/bcr-2013-009095.
9
Abnormal glucose metabolism and insulin sensitivity in Chinese patients with Gitelman syndrome.中国 Gitelman 综合征患者的葡萄糖代谢和胰岛素敏感性异常。
Am J Nephrol. 2013;37(2):152-7. doi: 10.1159/000346708. Epub 2013 Jan 31.
10
Genotype, phenotype, and follow-up in Taiwanese patients with salt-losing tubulopathy associated with SLC12A3 mutation.台湾 SLC12A3 基因突变相关失盐性肾小管病患者的基因型、表型及随访。
J Clin Endocrinol Metab. 2012 Aug;97(8):E1478-82. doi: 10.1210/jc.2012-1707. Epub 2012 Jun 7.