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Focal segmental glomerulosclerosis in a boy with Dent-2 disease.

作者信息

Kaneko Kazunari, Hasui Masafumi, Hata Atsuko, Hata Daisuke, Nozu Kandai

出版信息

Pediatr Nephrol. 2010 Apr;25(4):781-2. doi: 10.1007/s00467-009-1362-z. Epub 2009 Nov 10.

DOI:10.1007/s00467-009-1362-z
PMID:19902262
Abstract
摘要

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Focal segmental glomerulosclerosis in a boy with Dent-2 disease.
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Behcet's disease and focal segmental glomerulosclerosis: an unusual association.白塞病与局灶节段性肾小球硬化：一种不寻常的关联。
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Clinical Trials in FSGS: Past Challenges and New Trial Designs.局灶节段性肾小球硬化的临床试验：过去的挑战与新的试验设计
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Dental caries prevention as a modifiable precipitating factor of nephrotic syndrome relapse in children: an insight into simple-novel management.龋齿预防作为儿童肾病综合征复发的一个可改变的诱发因素：对简单新颖管理方法的深入探讨
Int Urol Nephrol. 2025 Apr 27. doi: 10.1007/s11255-025-04537-8.
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Hidden genetics behind glomerular scars: an opportunity to understand the heterogeneity of focal segmental glomerulosclerosis?肾小球瘢痕背后的隐藏遗传学：是否有机会了解局灶节段性肾小球硬化的异质性？
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Emerging Perspectives on the Rare Tubulopathy Dent Disease: Is Glomerular Damage a Direct Consequence of ClC-5 Dysfunction?

本文引用的文献

1
Atypical phenotype of type I Bartter syndrome accompanied by focal segmental glomerulosclerosis.伴有局灶节段性肾小球硬化的I型巴特综合征的非典型表型。
Pediatr Nephrol. 2009 Feb;24(2):415-8. doi: 10.1007/s00467-008-0999-3. Epub 2008 Oct 2.
2
Hypothesis: Dent disease is an underrecognized cause of focal glomerulosclerosis.假说： Dent病是局灶节段性肾小球硬化未被充分认识的病因。
Clin J Am Soc Nephrol. 2007 Sep;2(5):914-8. doi: 10.2215/CJN.00900207. Epub 2007 Aug 8.
3
OCRL1 mutations in patients with Dent disease phenotype in Japan.
新兴视角下的罕见肾小管病 Dent 病：肾小球损伤是否为 ClC-5 功能障碍的直接后果？
Int J Mol Sci. 2023 Jan 9;24(2):1313. doi: 10.3390/ijms24021313.
4
Dent Disease Type 2 as a Cause of Focal Segmental Glomerulosclerosis in a 6-Year-Old Boy: A Case Report.2型丹特病致一名6岁男孩局灶节段性肾小球硬化：病例报告
Front Pediatr. 2020 Oct 28;8:583230. doi: 10.3389/fped.2020.583230. eCollection 2020.
5
From protein uptake to Dent disease: An overview of the CLCN5 gene.从蛋白摄取到 Dent 病：CLCN5 基因概述。
Gene. 2020 Jul 15;747:144662. doi: 10.1016/j.gene.2020.144662. Epub 2020 Apr 11.
6
A role for OCRL in glomerular function and disease.OCRL在肾小球功能及疾病中的作用。
Pediatr Nephrol. 2020 Apr;35(4):641-648. doi: 10.1007/s00467-019-04317-4. Epub 2019 Dec 6.
7
Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.导致 Lowe 综合征或 Dent-2 病的外显子 OCRL 突变的剪接分析
Genes (Basel). 2018 Jan 4;9(1):15. doi: 10.3390/genes9010015.
8
Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?遗传性肾病综合征患者激素耐药的原因、人群、时机及检测方法
Pediatr Nephrol. 2019 Feb;34(2):195-210. doi: 10.1007/s00467-017-3838-6. Epub 2017 Nov 27.
9
Diagnosis and treatment of Dent disease in 10 Chinese boys.10名中国男孩的丹特病诊断与治疗
Intractable Rare Dis Res. 2017 Feb;6(1):41-45. doi: 10.5582/irdr.2016.01088.
10
Proteinuria in Dent disease: a review of the literature.Dent 病中的蛋白尿：文献综述。
Pediatr Nephrol. 2017 Oct;32(10):1851-1859. doi: 10.1007/s00467-016-3499-x. Epub 2016 Oct 18.
日本具有丹特病表型患者中的OCRL1突变
Pediatr Nephrol. 2007 Jul;22(7):975-80. doi: 10.1007/s00467-007-0454-x. Epub 2007 Mar 24.
4
Advanced renal insufficiency in a 34-year-old man with Lowe syndrome.
Am J Kidney Dis. 2004 Mar;43(3):538-43. doi: 10.1053/j.ajkd.2003.11.013.
5
Association of Gitelman's syndrome and focal glomerulosclerosis.
Nephron. 1998;79(2):244. doi: 10.1159/000045043.