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特发性局灶节段性肾小球硬化症合并 Gitelman 综合征。

Focal segmental glomerulosclerosis in association with Gitelman syndrome.

机构信息

Department of Nephrology, Ankara Education and Research Hospital, Şafaktepe Mah. Hakan sok. Acar sitesi B blok. No: 24/14, Mamak, Ankara, Turkey.

出版信息

Int Urol Nephrol. 2011 Sep;43(3):905-7. doi: 10.1007/s11255-010-9802-z. Epub 2010 Jul 14.

DOI:10.1007/s11255-010-9802-z
PMID:20625829
Abstract

Gitelman syndrome (GS) is an autosomal recessive disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia and hypocalciuria. Glomerulonephritis associated with GS is rarely documented in the literature. We present an adult patient with GS whose renal biopsy revealed focal segmental glomerulosclerosis.

摘要

Gitelman 综合征(GS)是一种常染色体隐性遗传病,其特征为低钾血症、代谢性碱中毒、低镁血症和低钙尿症。GS 相关肾小球肾炎在文献中鲜有报道。我们报告了 1 例 GS 成年患者,其肾活检显示局灶节段性肾小球硬化。

相似文献

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Focal segmental glomerulosclerosis in association with Gitelman syndrome.特发性局灶节段性肾小球硬化症合并 Gitelman 综合征。
Int Urol Nephrol. 2011 Sep;43(3):905-7. doi: 10.1007/s11255-010-9802-z. Epub 2010 Jul 14.
2
Hypokalaemic metabolic alkalosis resembing Gitelman syndrome with focal segmental glomerulosclerosis.
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Arab J Nephrol Transplant. 2013 Jan;6(1):37-9.
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Persistent hypokalemia due to a rare mutation in gitelman's syndrome.由于吉特曼综合征中的罕见突变导致持续低钾血症。
Saudi J Kidney Dis Transpl. 2020 Jan-Feb;31(1):259-262. doi: 10.4103/1319-2442.279949.
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Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.Gitelman 综合征:改善全球肾脏病预后组织(KDIGO)争议会议的共识和指导意见。
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引用本文的文献

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Novel Intronic Mutations of the Gene in Patients with Gitelman Syndrome.吉特曼综合征患者中该基因的新型内含子突变
Int J Gen Med. 2023 May 11;16:1797-1806. doi: 10.2147/IJGM.S408631. eCollection 2023.
2
Clinicopathological Features of Gitelman Syndrome with Proteinuria and Renal Dysfunction.伴蛋白尿和肾功能障碍的 Gitelman 综合征的临床病理特征。
Nephron. 2023;147(9):531-540. doi: 10.1159/000529775. Epub 2023 Feb 20.
3
A case of Gitelman syndrome with membranous nephropathy.一例 Gitelman 综合征合并膜性肾病。

本文引用的文献

1
Gitelman's syndrome: towards genotype-phenotype correlations?吉特曼综合征:走向基因型与表型的相关性?
Pediatr Nephrol. 2007 Mar;22(3):326-32. doi: 10.1007/s00467-006-0321-1. Epub 2006 Oct 24.
2
C1q nephropathy in association with Gitelman syndrome: a case report.C1q肾病合并吉特曼综合征:一例报告
Pediatr Nephrol. 2006 Dec;21(12):1904-8. doi: 10.1007/s00467-006-0261-9. Epub 2006 Sep 6.
3
Hypokalaemic salt-losing tubulopathies: an evolving story.低钾性失盐性肾小管病:一个不断演变的故事。
BMC Nephrol. 2022 Jul 26;23(1):267. doi: 10.1186/s12882-022-02875-8.
4
Gitelman Syndrome: A Rare Cause of Seizure Disorder and a Systematic Review.吉特林综合征:癫痫发作障碍的罕见病因及系统评价
Case Rep Med. 2019 Feb 5;2019:4204907. doi: 10.1155/2019/4204907. eCollection 2019.
5
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.
6
Fanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome.范科尼综合征与严重多尿:吉特曼综合征一种不常见的临床生物学表现。
BMC Pediatr. 2014 Aug 11;14:201. doi: 10.1186/1471-2431-14-201.
Nephrol Dial Transplant. 2003 Sep;18(9):1696-700. doi: 10.1093/ndt/gfg249.
4
Kidney transplant in Gitelman's syndrome. Report of the first case.吉特曼综合征患者的肾移植。首例病例报告。
J Nephrol. 2003 Jan-Feb;16(1):144-7.
5
The renin-angiotensin system and progression of renal disease: from hemodynamics to cell biology.
Nephron Physiol. 2003 Jan;93(1):P3-13. doi: 10.1159/000066656.
6
Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes.遗传性原发性肾小管性低钾性碱中毒:吉特曼综合征和巴特综合征综述
Am J Med Sci. 2001 Dec;322(6):316-32. doi: 10.1097/00000441-200112000-00004.
7
Chronic renal failure, end-stage renal disease, and peritoneal dialysis in Gitelman's syndrome.吉特曼综合征中的慢性肾衰竭、终末期肾病及腹膜透析
Am J Kidney Dis. 2001 Jul;38(1):165-8. doi: 10.1053/ajkd.2001.25210.
8
[Plasminogen activator inhibitor type 1: physiology and role in renal physiopathology].[1型纤溶酶原激活物抑制剂:生理学及其在肾脏病理生理学中的作用]
Nephrologie. 2001;22(1):5-13.
9
Expression of types I, II, and III TGF-beta receptors in human glomerulonephritis.I、II和III型转化生长因子-β受体在人类肾小球肾炎中的表达
J Am Soc Nephrol. 1998 Dec;9(12):2253-61. doi: 10.1681/ASN.V9122253.
10
Association of Gitelman's syndrome and focal glomerulosclerosis.
Nephron. 1998;79(2):244. doi: 10.1159/000045043.