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A young man presenting with recurrent nephrolithiasis.

作者信息

Hellemans Rachel, Verpooten Gert A, Bosmans Jean-Louis

机构信息

Department of Nephrology-Hypertension , Antwerp University Hospital , Belgium.

出版信息

NDT Plus. 2010 Dec;3(6):584-7. doi: 10.1093/ndtplus/sfq161. Epub 2010 Sep 15.

DOI:10.1093/ndtplus/sfq161
PMID:25949475
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4421407/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f073/4421407/21c70fe44aa7/sfq161fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f073/4421407/0896b4b71a42/sfq161fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f073/4421407/21c70fe44aa7/sfq161fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f073/4421407/0896b4b71a42/sfq161fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f073/4421407/21c70fe44aa7/sfq161fig2.jpg

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本文引用的文献

1
Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative study.丹特病的表型和基因异质性——一项意大利合作研究的结果
Nephrol Dial Transplant. 2006 Sep;21(9):2452-63. doi: 10.1093/ndt/gfl274. Epub 2006 Jul 5.
2
High citrate diet delays progression of renal insufficiency in the ClC-5 knockout mouse model of Dent's disease.高柠檬酸盐饮食可延缓丹特病ClC-5基因敲除小鼠模型中肾功能不全的进展。
Kidney Int. 2005 Aug;68(2):642-52. doi: 10.1111/j.1523-1755.2005.00442.x.
3
Dent Disease with mutations in OCRL1.
伴有OCRL1基因突变的丹特病
Am J Hum Genet. 2005 Feb;76(2):260-7. doi: 10.1086/427887. Epub 2004 Dec 30.
4
Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules.氯离子通道ClC-5的缺失会通过近端肾小管中巨膜蛋白和立方蛋白的转运缺陷而损害内吞作用。
Proc Natl Acad Sci U S A. 2003 Jul 8;100(14):8472-7. doi: 10.1073/pnas.1432873100. Epub 2003 Jun 18.
5
Responsiveness of hypercalciuria to thiazide in Dent's disease.丹特病中高钙尿症对噻嗪类药物的反应性。
J Am Soc Nephrol. 2002 Dec;13(12):2938-44. doi: 10.1097/01.asn.0000036869.82685.f6.
6
Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases.通过对丹特氏病(CLCN5基因突变)及其他肾小管疾病的研究定义的肾小管性蛋白尿。
Kidney Int. 2000 Jan;57(1):240-9. doi: 10.1046/j.1523-1755.2000.00847.x.
7
Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease.人氯离子通道CLC-5的肾内及亚细胞分布揭示了丹特病的病理生理基础。
Hum Mol Genet. 1999 Feb;8(2):247-57. doi: 10.1093/hmg/8.2.247.
8
CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets.
Kidney Int. 1998 Jan;53(1):31-7. doi: 10.1046/j.1523-1755.1998.00752.x.
9
X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.X连锁高钙尿性肾结石病:临床综合征与氯离子通道突变
Kidney Int. 1998 Jan;53(1):3-17. doi: 10.1046/j.1523-1755.1998.00718.x.
10
A common molecular basis for three inherited kidney stone diseases.三种遗传性肾结石疾病的共同分子基础。
Nature. 1996 Feb 1;379(6564):445-9. doi: 10.1038/379445a0.