Family history may be misleading in the diagnosis of Dent's disease

被引：10

作者：

Anglani, F

Bernich, P

Tosetto, E

Cara, M

Lupo, A

Nalesso, F

D'Angelo, A

Gambaro, G

机构：

[1] Univ Verona, Div Nephrol, Dept Biomed & Surg Sci, Osped Maggiore, I-37126 Verona, Italy

[2] Univ Padua, Mol Biol Lab, Dept Med & Surg Sci, Padua, Italy

[3] Univ Padua, Div Nephrol, Dept Med & Surg Sci, Padua, Italy

[4] Gen Hosp, Nephrol Unit, Camposampiero, PD, Italy

来源：

UROLOGICAL RESEARCH | 2006年 / 34卷 / 01期

关键词：

rickets; renal stone; hypercalciuria; nephrocalcinosis; X-linked nephrolithiasis; Dent's disease;

D O I：

10.1007/s00240-005-0005-5

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

The rare Dent's disease manifests with medullary nephrocalcinosis, nephrolithiasis, hypercalciuria, low molecular weight proteinuria and other tubular dysfunctions, rickets or osteomalacia, and renal failure, in various combinations. It is a recessive X-linked condition. Clinicians consider family history a fundamental pointer to its diagnosis, but this is not invariably the case as clearly pointed out by the two reported cases.

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收藏

页码：61 / 63

页数：3

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