Loss of Renal Phosphate Wasting in a Child with Autosomal Dominant Hypophosphatemic Rickets Caused by a  FGF23  Mutation

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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.

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Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.

(2000)

Proper serum phosphate concentrations are maintained by a complex and poorly understood process. Identification of genes responsible for inherited disorders involving disturbances in phosphate homeostasis may provide insight into the pathways that regulate phosphate balance. Several hereditary disorders of isolated phosphate wasting have been described, including X-linked hypophosphataemic rickets (XLH), hypophosphataemic bone disease (HBD), hereditary hypophosphataemic rickets with hypercalciuria (HHRH) and autosomal dominant hypophosphataemic rickets (ADHR). Inactivating mutations of the gene PHEX, encoding a member of the neutral endopeptidase family of proteins, are responsible for XLH (refs 6,7). ADHR (MIM 193100) is characterized by low serum phosphorus concentrations, rickets, osteomalacia, lower extremity deformities, short stature, bone pain and dental abscesses. Here we describe a positional cloning approach used to identify the ADHR gene which included the annotation of 37 genes within 4 Mb of genomic sequence. We identified missense mutations in a gene encoding a new member of the fibroblast growth factor (FGF) family, FGF23. These mutations in patients with ADHR represent the first mutations found in a human FGF gene.

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Localization of a Renal Sodium-Phosphate Cotransporter Gene to Human Chromosome 5q35

Nicole Lemieux, Heini Murer, Harriet Tenenhouse … (1994)

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Author and article information

Journal

Journal ID (publisher-id): HRE

Journal ID (nlm-ta): Horm Res Paediatr

Journal ID (doi): 10.1159/issn.1663-2818

Title: Hormone Research in Paediatrics

Publisher: S. Karger AG

ISSN (Print): 1663-2818

ISSN (Electronic): 1663-2826

Publication date Subscription-year: 2001

Publication date (Print): 2001

Publication date (Electronic): 18 January 2002

Volume: 55

Issue: 6

Pages: 305-308

Affiliations

^aDepartment of Pediatrics, Medical University of Lübeck, ^bDepartment of Pediatrics, Göppingen, and ^cDepartment of Human Genetics, Technische Universität München und GSF Forschungszentrum für Umwelt und Gesundheit, Neuherberg, München, Germany

Article

Publisher ID: 50018 Other ID: Horm Res 2001;55:305–308

DOI: 10.1159/000050018

PubMed ID: 11805436

SO-VID: a4e5ac57-13cd-40dc-91ad-46b871a06172

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Figures: 2, References: 12, Pages: 4

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Loss of Renal Phosphate Wasting in a Child with Autosomal Dominant Hypophosphatemic Rickets Caused by a FGF23 Mutation

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