Clin Osteol 2006; 11(1): 24-27

Hypophasphatemic osteomalaciaReview articles

P Horák, M. Tichý, J. Zadražil

An uncommon case of the acquired form of hypophosphatemic osteomalatia in forty years old lady with hip, ankle and spine pain is presented. The biochemical examination revealed severe hypophosphatemia (0,47 mmol/l) and elevation of the bone specific alkaline phosphatase (3.23 pmol/l). The diagnosis was confirmed by the bone histomorphometry. The therapy with potassium hydrogen phosphate, substitution of calcium and administ­ ration ofvitamin D3 brought the significant improvement ofclinical symptoms and laboratory findings. Authors discuss the differential diagnosis of hy­ pophosphatemia and the pathogenesis of hereditary and acquired forms of hypophosphatemic osteomalatia.

Keywords: hypophosphatemia,, osteomalatia

Published: June 11, 2006  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
Horák P, Tichý M, Zadražil J. Hypophasphatemic osteomalacia. Osteologický bulletin. 2006;11(1):24-27.
Share...
Download citation
  • BibTeX (.bib)
  • Bookends (.ris)
  • EasyBib (.ris)
  • EndNote (.enw)
  • EndNote 8 (.xml)
  • ISI WoS (.isi)
  • Medlars (.medlars)
  • Mendeley (.ris)
  • MODS (.xml)
  • Papers (.ris)
  • RefWorks (.txt)
  • RefManager (.ris)
  • RIS (.ris)
  • MS Word (.xml)
  • Zotero (.ris)
    • Open full article

    References

    1. Schuck O. Poruchy metabolizmu fosforu. In: Schuck O. Poruchy metabolizmu vo­ dy a elektrolytů v klinické praxi. Praha, Grada Publishing, s.r.o., 2000:197-205.
    2. Takeda E, Yamamoto H, Nashiki K, et al. Inorganic phosphate homeostasis and the role of dietary phosphorus. J Cell Mollecular Med 2004; 8:191-200. Go to original source...
    3. Hruska KA, Connollz J. Hyperphosphatemia and hypophosphatemia. In: ASBMR. Primer on the metabolic bone diseases and disorders of mineral meta­ bolism. 3rd Ed., Philadelphia, New York, Lippincott-Raven, 1996:238-45.
    4. Albright F, Butler AM, Bloomberg E. Rickets resistant to vitamin D therapy. Am J Dis Child 1937;54:529. Go to original source...
    5. Rasmussen H, Tenenhouse HS. Mendelian hypophosphatemias. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds.). The metabolic and molecular basis of inhe­ rited disease. New York, McGraw Hill, 1995:3717^5.
    6. Tenenhouse HS. X-linked hypophosphatemia: a homologous disorder in humans and mice. Nephrol Dial Transplant 1999;14:333-41. Go to original source...
    7. HYP Consortium. A gene (PEX) with homology to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet 1995;11:130-36. Go to original source...
    8. Beck L, Soumounou Y, Martel J, et al. Pex/PEX tissue distribution and evidence for a deletion in the 3'region of the Jfex gene in X-linked hypophosphatemic mice. J Clin Invest 1997;99:1200-09. Go to original source...
    9. Biber J. Emerging roles of transporter-PDZ complexes in renal proximal tubular reabsorption. Pflugers Arch. Eur J Physiol 2001;443:3-5. Go to original source...
    10. Tenenhouse HS, Sabagh Z. Novel phosphate-regulating genes in the pathogenesis of renal phosphate wasting disorders. Pflugers Arch. Eur J Physiol 2002; 444:317-26. Go to original source...
    11. Silve C, Beck L. Is FGF23 the long sought phosphaturic factor phosphatonin? Nephrol Dial Transplant 2002;17:958-61. Go to original source...
    12. Liu S, Guo R, Simpson LG, et al. Regulation of fibroblastic growth factor 23 ex­ pression but not degradation by PHEX. J Biol Chem 2003;278:37419-26. Go to original source...
    13. Rowe PS.The wrickkened pathways of FGF23, MEPE and PHEX. Crit Rev Oral Biol Med 2004; 15:264-81. Go to original source...
    14. Econs MJ, McEnery PT Autosomal dominant hypophosphatemic rickets/osteomalatia: clinical characterization of a novel renal phosphate wasting disorder. J Clin Endocrinol Metab 1997;82:674-81. Go to original source...
    15. Cho HY, Lee BH, Kang JH, et al. A clinical and molecular genetic study of hy­ pophosphatemic rickets in children. Pediatr Res 2005;58:329-33. Go to original source...
    16. White KE, Carn G, Lorenz-Depiereux B, et al. Autosomal-dominant hypophosp­ hatemic rickets (ADHR) mutations stabilize FGF-23. Kidney Int 2001;60:2079-86. Go to original source...
    17. ADHR Consortium. Autosomal dominant hypophosphataemic rickets is associa­ ted with mutations in FGF23. Nat Genet 2000;26:345 48. Go to original source...
    18. Evans WE, Ichikawa S, Davis SI, Econs MJ. A missense mutation in FGFR1 cau­ ses a novel syndrome: Craniofacial dysplasia with hypophosphatemia (CFDH). J Bone Miner Res 2003;18(Suppl 1):4.
    19. Drezner MK, Lobaugh LK. The pathogenesis and treatment of tumor-induced os­ teomalacia. In: Normal AW, Shalter K, Herath D, Grlgoleit HG, (eds.). Vitamin D: Chemical, biochemical and clinical endocrinology of calcium metabolism. Berlin, Walter de Gruyter, 1982:945-54.
    20. Agus ZS. Oncogenic hypophosphatemic osteomalacia. Kidney Int 1983;24: 113-23. Go to original source...
    21. Cai Q, Hodgson SF, Kao PC, et al. Briefreport: inhibition ofrenal phosphate tran­ sport by a tumor product in a patient with oncogenic osteomalacia. N Engl J Med 1994;330:1645-49. Go to original source...
    22. Wilkins GE, Granleese S, Hegele RG, et al. Oncogenic osteomalacia: evidence for a humoral phosphaturic factor, J Clin Endocrinol Metab 1995;80:1628-34. Go to original source...
    23. Jonsson KB, Mannstadt M, Miyauchi A, et al. Extracts from tumors causing on­ cogenic osteomalacia inhibit phosphate uptake in opossum kidney cells. J Endo­ crinol 2001;169:612-20. Go to original source...
    24. Narvaez J, Domingo-Domenech E, Narvaez JA, et al. Acquired hypophosphatemic osteomalacia associated with multiple myeloma. Joint Bone Spine 2005; 72:424-26. Go to original source...
    25. Gaasbeek A, Meinders AE. Hypophosphatemia: an update on its etiology and treatment. Am J Medicine 2005;118:1094-101. Go to original source...
    26. Subramanian R, Khardori R. Severe Hypophosphatemia: Pathophysiologic impli­ cations, clinical presentations and treatment. Medicine 2000;79:1-8. Go to original source...

    Return to the content


    Clinical Osteology

    Madam, Sir,
    please be aware that the website on which you intend to enter, not the general public because it contains technical information about medicines, including advertisements relating to medicinal products. This information and communication professionals are solely under §2 of the Act n.40/1995 Coll. Is active persons authorized to prescribe or supply (hereinafter expert).
    Take note that if you are not an expert, you run the risk of danger to their health or the health of other persons, if you the obtained information improperly understood or interpreted, and especially advertising which may be part of this site, or whether you used it for self-diagnosis or medical treatment, whether in relation to each other in person or in relation to others.

    I declare:

    1. that I have met the above instruction
    2. I'm an expert within the meaning of the Act n.40/1995 Coll. the regulation of advertising, as amended, and I am aware of the risks that would be a person other than the expert input to these sites exhibited

    No
    Yes

    If your statement is not true, please be aware
    that brings the risk of danger to their health or the health of others.