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登特病——范科尼综合征的高钙尿变异型。

Dent's disease--the hypercalciuric variant of Fanconi's syndrome.

作者信息

Kabícek P, Bayer M

机构信息

Department of Pediatrics, 1st Faculty of Medicine, Charles University, Praha, Czech Republic.

出版信息

Sb Lek. 1998;99(1):21-4.

PMID:9748795
Abstract

Dent's disease is a rare type of proximal renal tubular defect characterized by hypercalciuria, low-molecular-weight (LMW) proteinuria, nephrocalcinosis and slowly progressive renal failure, short stature and osteopenia in children with clinical symptoms of rickets. This "hypercalciuric rickets" was originally described by Charles Dent and Max Friedman in 1964 [1]. The disease is probably linked to the X chromosome so that males are much more severely affected than females.

摘要

登特病是一种罕见的近端肾小管缺陷类型，其特征为高钙尿症、低分子量蛋白尿、肾钙质沉着症以及缓慢进展的肾衰竭，患病儿童身材矮小、骨质减少并伴有佝偻病的临床症状。这种“高钙尿性佝偻病”最初由查尔斯·登特和马克斯·弗里德曼于1964年描述[1]。该疾病可能与X染色体相关联，因此男性受影响的程度比女性严重得多。

相似文献

1
Dent's disease--the hypercalciuric variant of Fanconi's syndrome.登特病——范科尼综合征的高钙尿变异型。
Sb Lek. 1998;99(1):21-4.
2
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.
3
Hypercalciuria and nephrocalcinosis in patients with idiopathic low-molecular-weight proteinuria in Japan: is the disease identical to Dent's disease in United Kingdom?日本特发性低分子量蛋白尿患者的高钙尿症和肾钙质沉着症：该疾病与英国的丹特病相同吗？
Nephron. 1995;69(3):242-7. doi: 10.1159/000188464.
4
Dent's disease.丹氏病。
Orphanet J Rare Dis. 2010 Oct 14;5:28. doi: 10.1186/1750-1172-5-28.
5
Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.
Hum Mol Genet. 1993 Dec;2(12):2129-34. doi: 10.1093/hmg/2.12.2129.
6
Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis.丹特病及相关X连锁肾结石综合征的发病机制。
Kidney Int. 2000 Mar;57(3):787-93. doi: 10.1046/j.1523-1755.2000.00916.x.
7
Diet-dependent hypercalciuria in transgenic mice with reduced CLC5 chloride channel expression.氯离子通道蛋白5（CLC5）表达降低的转基因小鼠中饮食依赖性高钙尿症
Proc Natl Acad Sci U S A. 1999 Oct 12;96(21):12174-9. doi: 10.1073/pnas.96.21.12174.
8
[Dent's disease: hereditary nephrolithiasis related to defective tubular endocytosis processes].登特氏病：与肾小管内吞作用缺陷相关的遗传性肾结石病
G Ital Nefrol. 2003 Nov-Dec;20(6):578-88.
9
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.
10
A novel mutation of Dent's disease in an 11-year-old male with nephrolithiasis and nephrocalcinosis.一名患有肾结石和肾钙质沉着症的11岁男性患者的丹特病新突变。
Arch Argent Pediatr. 2018 Jun 1;116(3):e442-e444. doi: 10.5546/aap.2018.eng.e442.