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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。

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