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由丹特病引起的低磷血症性佝偻病：一例病例报告及文献复习

Hypophosphatemic rickets due to Dent's disease: A case report and review of literature.

作者信息

Annigeri R A, Rajagopalan R

机构信息

Department of Nephrology, Apollo Hospitals, Chennai, India.

出版信息

Indian J Nephrol. 2009 Oct;19(4):163-6. doi: 10.4103/0971-4065.59340.

DOI:10.4103/0971-4065.59340
PMID:20535254
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2875708/
Abstract

We report a case of rickets due to Dent's disease in a two-year-old boy. He was treated with sodium phosphate, calcitriol and potassium citrate supplements, following which there was a remarkable improvement in mobility, growth and bony deformities. The hypercalciuria associated with Dent's disease was effectively corrected using hydrochlorothiazide.

摘要

我们报告了一例两岁男孩因丹特病导致的佝偻病。他接受了磷酸钠、骨化三醇和柠檬酸钾补充剂治疗，之后活动能力、生长情况和骨骼畸形有了显著改善。使用氢氯噻嗪有效纠正了与丹特病相关的高钙尿症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5fa0/2875708/ffca492ba82f/IJN-19-163-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5fa0/2875708/97a5adec1cb7/IJN-19-163-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5fa0/2875708/ffca492ba82f/IJN-19-163-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5fa0/2875708/97a5adec1cb7/IJN-19-163-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5fa0/2875708/ffca492ba82f/IJN-19-163-g002.jpg

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Hypophosphatemic rickets due to Dent's disease: A case report and review of literature.由丹特病引起的低磷血症性佝偻病：一例病例报告及文献复习
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本文引用的文献

1
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.
2
Chloride transport in the kidney: lessons from human disease and knockout mice.肾脏中的氯离子转运：来自人类疾病和基因敲除小鼠的启示。
J Am Soc Nephrol. 2005 Jun;16(6):1549-61. doi: 10.1681/ASN.2005020207. Epub 2005 Apr 13.
3
Evidence for genetic heterogeneity in Dent's disease.丹特病中基因异质性的证据。
Kidney Int. 2004 May;65(5):1615-20. doi: 10.1111/j.1523-1755.2004.00571.x.
4
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.
5
Chloride channels in the kidney: lessons learned from knockout animals.肾脏中的氯离子通道：从基因敲除动物模型中获得的经验教训。
Am J Physiol Renal Physiol. 2002 Dec;283(6):F1176-91. doi: 10.1152/ajprenal.00184.2002.
6
Nephrolithiasis.肾结石病
Semin Nephrol. 1999 Jul;19(4):381-8.
7
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.
8
Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.通过连锁研究将导致X连锁隐性肾结石症的基因定位于Xp11.22。
J Clin Invest. 1993 Jun;91(6):2351-7. doi: 10.1172/JCI116467.
9
Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance.丹特病；一种家族性近端肾小管综合征，伴有低分子量蛋白尿、高钙尿症、肾钙质沉着症、代谢性骨病、进行性肾衰竭，且男性明显居多。
QJM. 1994 Aug;87(8):473-93.