Loss of renal phosphate wasting in a child with autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation

被引:26
|
作者
Kruse, K [1 ]
Woelfel, D [1 ]
Storm, TM [1 ]
机构
[1] Univ Klinikum Lubeck, Klin Kinder Jugendmed, D-23538 Lubeck, Germany
关键词
autosomal dominant hypophosphatemic rickets; X-linked hypophosphatemic rickets; phosphate-regulating gene; fibroblast growth factor 23; renal phosphate wasting;
D O I
10.1159/000050018
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
A girl with autosomal dominant hypophosphatemic rickets, presented with clinical, radiological and laboratory signs of rickets at the age of 11 months. She showed a good response to the treatment with low doses of oral phosphate and calcitriol. Surprisingly, she lost her renal phosphate wasting at the age of 8 years, indicating that the disturbed phosphate metabolism can be compensated by hormonal or other factors. Copyright (C) 2002 S. Karger AG, Basel.
引用
收藏
页码:305 / 308
页数:4
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