Literature DB >> 11805436

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

K Kruse1, D Woelfel, T M Strom, T M Storm.   

Abstract

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 2002 S. Karger AG, Basel

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Year:  2001        PMID: 11805436     DOI: 10.1159/000050018

Source DB:  PubMed          Journal:  Horm Res        ISSN: 0301-0163


  7 in total

Review 1.  FGF23 and Phosphate Wasting Disorders.

Authors:  Xianglan Huang; Yan Jiang; Weibo Xia
Journal:  Bone Res       Date:  2013-06-28       Impact factor: 13.567

Review 2.  FGF23 and syndromes of abnormal renal phosphate handling.

Authors:  Clemens Bergwitz; Harald Jüppner
Journal:  Adv Exp Med Biol       Date:  2012       Impact factor: 2.622

3.  FGF23 analysis of a Chinese family with autosomal dominant hypophosphatemic rickets.

Authors:  Yue Sun; Ou Wang; Weibo Xia; Yan Jiang; Mei Li; Xiaoping Xing; Yingying Hu; Huaicheng Liu; Xunwu Meng; Xueying Zhou
Journal:  J Bone Miner Metab       Date:  2011-06-28       Impact factor: 2.626

4.  Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting.

Authors:  Susanne Thiele; Ralf Werner; Annika Stubbe; Olaf Hiort; Wolfgang Hoeppner
Journal:  Eur J Endocrinol       Date:  2020-11       Impact factor: 6.664

5.  Effect of hydrolysis-resistant FGF23-R179Q on dietary phosphate regulation of the renal type-II Na/Pi transporter.

Authors:  Hiroko Segawa; Eri Kawakami; Ichiro Kaneko; Masashi Kuwahata; Mikiko Ito; Kenichiro Kusano; Hitoshi Saito; Naoshi Fukushima; Ken-Ichi Miyamoto
Journal:  Pflugers Arch       Date:  2003-07-08       Impact factor: 3.657

Review 6.  Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation.

Authors:  Murat Bastepe; Harald Jüppner
Journal:  Rev Endocr Metab Disord       Date:  2008-03-26       Impact factor: 6.514

7.  New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.

Authors:  Sibylle Sabrautzki; Isabel Rubio-Aliaga; Wolfgang Hans; Helmut Fuchs; Birgit Rathkolb; Julia Calzada-Wack; Christian M Cohrs; Matthias Klaften; Hartwig Seedorf; Sebastian Eck; Ana Benet-Pagès; Jack Favor; Irene Esposito; Tim M Strom; Eckhard Wolf; Bettina Lorenz-Depiereux; Martin Hrabě de Angelis
Journal:  Mamm Genome       Date:  2012-04-21       Impact factor: 2.957

  7 in total

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