Tumor-induced osteomalacia—a diagnostic dilemma for an orthopedic surgeon

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• 作者：Deep Sharma (1)
  D. K. Patro (1)
  Murali Poduval (1)
  M. Karthikeyan (1)
  Pooja Dhiman (2)
  
• 关键词：Phosphate ; Tumour ; Osteomalacia ; FGF23
• 刊名：European Orthopaedics and Traumatology
• 出版年：2014
• 出版时间：September 2014
• 年：2014
• 卷：5
• 期：3
• 页码：233-239
• 全文大小：1,544 KB
• 参考文献：1. McCance R (1947) Osteomalacia with Looser’s nodes (Milkman’s syndrome) due to a raised resistance to vitamin D acquired about the age of 15 years. Q J Med 16:33-6
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  9. White KE, Jonsson KB, Carn G, Hampson G, Spector TD, Mannstadt M, Lorenz-Depiereux B, Miyauchi A, Yang IM, Ljunggren O et al (2001) The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting. J Clin Endocrinol Metab 86:497-00 CrossRef
  10. White KE, Larsson TE, Econs MJ (2006) The roles of specific genes implicated as circulating factors involved in normal and disordered phosphate homeostasis: frizzled related protein-4, matrix extracellular phosphoglycoprotein, and fibroblast growth factor 23. Endocr Rev 27(3):221-41 CrossRef
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  12. Riminucci M, Collins MT, Fedarko NS, Cherman N, Corsi A, White KE, Waguespack S, Gupta A, Hannon T, Econs MJ et al (2003) FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J Clin Investig 112:683-92 CrossRef
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  14. Berndt TJ et al (2005) ’Phosphatonins-and the regulation of phosphorus homeostasis. Am J Physiol Renal Physiol 289:F1170–F1182
  15. ADHR Consortium (2000) Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. The ADHR Consortium. Nat Genet 26:345-48 CrossRef
  16. Imel EA, Peacock M, Pitukcheewanont P, Heller HJ, Ward LM, Shulman D, Kassem M, Rackoff P, Zimering M, Dalkin A et al (2006) Sensitivity of fibroblast growth factor 23 measurements in tumor-induced osteomalacia. J Clin Endocrinol Metab 91:2055-061 CrossRef
  17. Imel EA, Hui SL, Econs MJ (2007) FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets. J Bone Miner Res 22:520-26 CrossRef
  
• 作者单位：Deep Sharma (1)
  D. K. Patro (1)
  Murali Poduval (1)
  M. Karthikeyan (1)
  Pooja Dhiman (2)
  
  1. Department of Orthopaedics, JIPMER, Pondicherry, India
  2. Department of Biochemistry, JIPMER, Pondicherry, India
  
• ISSN：1867-4577

文摘

Tumor-induced osteomalacia is a rare condition caused by excess production of phosphatonins most notably fibroblast growth factor?3 (FGF-23), by the tumor cells, leading to phosphate wasting and consecutive severe hypophosphatemia. This results in patient developing gradually progressive muscle weakness and bone loss resulting in severe osteomalacia, making the patient bedbound. These tumors are mostly benign mesenchymal tumors, which remain hidden in soft tissues or bone and thus are difficult to diagnose. And in the presence of normal serum calcium and parathyroid levels with only mild alteration of vitamin D levels, the diagnosis gets further delayed causing a lot of apathy to the patient. We hereby present a thorough review of this condition along with our experience in diagnosing and treating this patient. This underlines the fact that a high index of suspicion is required for diagnosing this condition in a patient with persistent complains of fatigue and bone pains. Appropriate investigations done at an early stage can help one in identifying and excising these tumors, bringing about a rapid relief of symptoms and saving the patient from a lot of distress.