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Diagnosis of a patient with oncogenic osteomalacia using a phosphate uptake bioassay of serum and magnetic resonance imaging
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2001 In: Eur J Endocrinol, ISSN 0804-4643, Vol. 4, no 145, 469-76 p.Article in journal (Refereed) Published
Place, publisher, year, edition, pages
2001. Vol. 4, no 145, 469-76 p.
URN: urn:nbn:se:uu:diva-91993OAI: oai:DiVA.org:uu-91993DiVA: diva2:164924
Available from: 2004-09-02 Created: 2004-09-02Bibliographically approved
In thesis
1. The Role of Fibroblast Growth Factor 23 in Phosphate Homeostasis
Open this publication in new window or tab >>The Role of Fibroblast Growth Factor 23 in Phosphate Homeostasis
2004 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

The regulation of serum phosphate (Pi) concentrations is a complex process and our current models are far from complete. Due to major advancements in biotechnology and the development of more powerful research tools, recent advances in the field of genetics has led to the identification of several candidates for the long sought-after phosphatonin(s), or Pi regulating hormones. One of these candidates is fibroblast growth factor 23 (FGF-23) and this thesis is based upon studies of the role of FGF-23 in Pi homeostasis. We demonstrate that FGF-23 is a secreted protein which is highly expressed in tumors giving rise to oncogenic hypophosphatemic osteomalacia (OOM). Furthermore, we have developed a two-site enzyme-linked immunosorbent assay for the detection of circulating FGF-23 and established that FGF-23 is present in the circulation of healthy individuals. Also, FGF-23 serum levels are elevated in patients with disturbances in Pi homeostasis such as OOM, X-linked hypophosphatemic rickets (XLH) and chronic kidney disease and are likely to play an important role in the pathogenesis of these disorders. A transgenic mouse model that express human FGF-23 under the control of the α1(I) collagen promoter exhibit similar clinical and biochemical characteristics as do patients with OOM, XLH and autosomal dominant hypophosphatemic rickets indicating that FGF-23 is an important determinant of Pi homeostasis, vitamin D metabolism and bone mineralization.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2004. 78 p.
Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 0282-7476 ; 1367
Medicine, Fibroblast Growth Factor 23, FGF-23, phosphate homeostasis, vitamin D metabolism, sodium/phosphate cotransporters, autosomal dominant hypophosphatemic rickets, ADHR, X-linked hypophosphatemic rickets, XLH, oncogenic osteomalacia, OOM, PHEX, Medicin
National Category
Dermatology and Venereal Diseases
urn:nbn:se:uu:diva-4489 (URN)91-554-6013-5 (ISBN)
Public defence
2004-09-25, Enghoffsalen, UAS, ingång 50, b.v, Uppsala, 13:15
Available from: 2004-09-02 Created: 2004-09-02 Last updated: 2013-12-05Bibliographically approved

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