Osteomalacia

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Yasuhiro Takeuchi - One of the best experts on this subject based on the ideXlab platform.

  • pathogenesis and diagnostic criteria for rickets and Osteomalacia proposal by an expert panel supported by the ministry of health labour and welfare japan the japanese society for bone and mineral research and the japan endocrine society
    Journal of Bone and Mineral Metabolism, 2015
    Co-Authors: Seiji Fukumoto, Ryo Okazaki, Yasuhiro Takeuchi, Keiichi Ozono, Toshimi Michigami, Masanori Minagawa, Toshitsugu Sugimoto, Toshio Matsumoto
    Abstract:

    Rickets and Osteomalacia are diseases characterized by impaired mineralization of bone matrix. Recent investigations have revealed that the causes of rickets and Osteomalacia are quite variable. Although these diseases can severely impair the quality of life of affected patients, rickets and Osteomalacia can be completely cured or at least respond to treatment when properly diagnosed and treated according to the specific causes. On the other hand, there are no standard criteria to diagnose rickets or Osteomalacia nationally and internationally. Therefore, we summarize the definition and pathogenesis of rickets and Osteomalacia, and propose diagnostic criteria and a flowchart for the differential diagnosis of various causes of these diseases. We hope that these criteria and the flowchart are clinically useful for the proper diagnosis and management of these diseases.

  • pathogenesis and diagnostic criteria for rickets and Osteomalacia proposal by an expert panel supported by ministry of health labour and welfare japan the japanese society for bone and mineral research and the japan endocrine society opinion
    Endocrine Journal, 2015
    Co-Authors: Seiji Fukumoto, Ryo Okazaki, Yasuhiro Takeuchi, Keiichi Ozono, Toshimi Michigami, Masanori Minagawa, Toshitsugu Sugimoto, Toshio Matsumoto
    Abstract:

    Rickets and Osteomalacia are diseases characterized by impaired mineralization of bone matrix. Recent investigations have revealed that the causes of rickets and Osteomalacia are quite variable. Although these diseases can severely impair the quality of life of affected patients, rickets and Osteomalacia can be completely cured or at least respond to treatment when properly diagnosed and treated according to the specific causes. On the other hand, there are no standard criteria to diagnose rickets or Osteomalacia nationally and internationally. Therefore, we summarize the definition and pathogenesis of rickets and Osteomalacia, and propose diagnostic criteria and a flowchart for the differential diagnosis of various causes of these diseases. We hope that these criteria and the flowchart are clinically useful for the proper diagnosis and management of these diseases.

  • pathogenesis and diagnostic criteria for rickets and Osteomalacia proposal by an expert panel supported by ministry of health labour and welfare japan the japanese society for bone and mineral research and the japan endocrine society opinion
    Endocrine Journal, 2015
    Co-Authors: Seiji Fukumoto, Ryo Okazaki, Yasuhiro Takeuchi, Keiichi Ozono, Toshimi Michigami, Masanori Minagawa, Toshitsugu Sugimoto, Toshio Matsumoto
    Abstract:

    Rickets and Osteomalacia are diseases characterized by impaired mineralization of bone matrix. Recent investigations revealed that the causes for rickets and Osteomalacia are quite variable. While these diseases can severely impair the quality of life of the affected patients, rickets and Osteomalacia can be completely cured or at least respond to treatment when properly diagnosed and treated according to the specific causes. On the other hand, there are no standard criteria to diagnose rickets or Osteomalacia nationally and internationally. Therefore, we summarize the definition and pathogenesis of rickets and Osteomalacia, and propose the diagnostic criteria and a flowchart for the differential diagnosis of various causes for these diseases. We hope that these criteria and flowchart are clinically useful for the proper diagnosis and management of patients with these diseases.

  • venous sampling for fibroblast growth factor 23 confirms preoperative diagnosis of tumor induced Osteomalacia
    The Journal of Clinical Endocrinology and Metabolism, 2004
    Co-Authors: Yasuhiro Takeuchi, Yuji Yamazaki, Takeyoshi Yamashita, Hisanori Suzuki, Sayoko Ogura, Rie Imai, Yoshinari Miyamoto, Hiroshi Okazaki, Kozo Nakamura, Kazuhiko Nakahara
    Abstract:

    Tumor-induced Osteomalacia (TIO) is a paraneoplastic disorder characterized by hypophosphatemia, phosphaturia, inappropriately low serum levels of 1,25-dihydroxyvitamin D for hypophosphatemia, and skeletal undermineralization. Patients with TIO suffer from severe muscle weakness and pain. Because surgical removal of the responsible tumors is the only satisfactory treatment for TIO, identification of the tumors is clinically essential. However, because they are predominantly slow-growing neoplasms of benign mesenchymal origin, localization of the responsible tumors is often very difficult. Moreover, even if a tumor is found in a patient with hypophosphatemic Osteomalacia, we have had no way to know that the tumor is actually causing the disease. Fibroblast growth factor-23 (FGF-23) was recently identified as a causative factor for TIO and was shown to induce renal phosphate wasting. We have recently shown that the circulatory FGF-23 level was high in a patient with TIO and rapidly decreased after removal of the responsible tumor. For the first time, we describe a patient with adult-onset hypophosphatemic Osteomalacia in whom a clinical diagnosis of TIO was confirmed before surgical removal of the tumor by localizing the responsible tumor using venous sampling for FGF-23 together with magnetic resonance imaging. This combinatorial procedure would be clinically useful for sporadic cases of hypophosphatemic rickets/Osteomalacia.

  • venous sampling for fibroblast growth factor 23 confirms preoperative diagnosis of tumor induced Osteomalacia
    The Journal of Clinical Endocrinology and Metabolism, 2004
    Co-Authors: Yasuhiro Takeuchi, Yuji Yamazaki, Takeyoshi Yamashita, Hisanori Suzuki, Sayoko Ogura, Rie Imai, Yoshinari Miyamoto, Hiroshi Okazaki, Kozo Nakamura, Kazuhiko Nakahara
    Abstract:

    Tumor-induced Osteomalacia (TIO) is a paraneoplastic disorder characterized by hypophosphatemia, phosphaturia, inappropriately low serum levels of 1,25-dihydroxyvitamin D for hypophosphatemia, and skeletal undermineralization. Patients with TIO suffer from severe muscle weakness and pain. Because surgical removal of the responsible tumors is the only satisfactory treatment for TIO, identification of the tumors is clinically essential. However, because they are predominantly slow-growing neoplasms of benign mesenchymal origin, localization of the responsible tumors is often very difficult. Moreover, even if a tumor is found in a patient with hypophosphatemic Osteomalacia, we have had no way to know that the tumor is actually causing the disease. Fibroblast growth factor-23 (FGF-23) was recently identified as a causative factor for TIO and was shown to induce renal phosphate wasting. We have recently shown that the circulatory FGF-23 level was high in a patient with TIO and rapidly decreased after removal of the responsible tumor. For the first time, we describe a patient with adult-onset hypophosphatemic Osteomalacia in whom a clinical diagnosis of TIO was confirmed before surgical removal of the tumor by localizing the responsible tumor using venous sampling for FGF-23 together with magnetic resonance imaging. This combinatorial procedure would be clinically useful for sporadic cases of hypophosphatemic rickets/Osteomalacia. (J Clin Endocrinol Metab 89: 3979 –3982, 2004)

Anne E. Nelson - One of the best experts on this subject based on the ideXlab platform.

  • fibroblast growth factor 23 a new clinical marker for oncogenic Osteomalacia
    The Journal of Clinical Endocrinology and Metabolism, 2003
    Co-Authors: Roderick Clifton Bligh, Amy Y M Au, Adele Clarkson, Anne E. Nelson, Anthony J Gill, Michiko Mirams, Harald Juppner
    Abstract:

    The phosphate-wasting condition, oncogenic Osteomalacia, is problematic to diagnose and manage clinically due to difficulty in locating the causative tumor. Fibroblast growth factor 23 (FGF23) has recently been implicated in the pathogenesis of oncogenic Osteomalacia. In this case the patient presented with clinical features typical of oncogenic Osteomalacia. Removal of an angiolipoma from the thigh did not correct the clinical or biochemical abnormalities. Subsequent identification and removal of a benign giant cell tumor in the pubic ramus, however, did result in normalization of his symptoms and signs. Positive staining for FGF23 protein by immunohistochemistry was demonstrated in the giant cell tumor, but not in the angiolipoma. The serum concentration of FGF23 was elevated in preoperative serum, then normalized after removal of the giant cell tumor. Expression of both FGF23 mRNA and protein was demonstrated in the giant cell tumor tissue, and FGF23 mRNA expression and renal phosphate uptake inhibitor...

  • fibroblast growth factor 23 a new clinical marker for oncogenic Osteomalacia
    The Journal of Clinical Endocrinology and Metabolism, 2003
    Co-Authors: Roderick Clifton Bligh, Adele Clarkson, Anne E. Nelson, Harald Juppner, Anthony J Gill, Michiko Mirams, Stephen Ruff, Paul Stalley
    Abstract:

    The phosphate-wasting condition, oncogenic Osteomalacia, is problematic to diagnose and manage clinically due to difficulty in locating the causative tumor. Fibroblast growth factor 23 (FGF23) has recently been implicated in the pathogenesis of oncogenic Osteomalacia. In this case the patient presented with clinical features typical of oncogenic Osteomalacia. Removal of an angiolipoma from the thigh did not correct the clinical or biochemical abnormalities. Subsequent identification and removal of a benign giant cell tumor in the pubic ramus, however, did result in normalization of his symptoms and signs. Positive staining for FGF23 protein by immunohistochemistry was demonstrated in the giant cell tumor, but not in the angiolipoma. The serum concentration of FGF23 was elevated in preoperative serum, then normalized after removal of the giant cell tumor. Expression of both FGF23 mRNA and protein was demonstrated in the giant cell tumor tissue, and FGF23 mRNA expression and renal phosphate uptake inhibitory activity were also detected in cultured giant cell tumor cells. This case provides further evidence for the involvement of FGF23 in the pathogenesis of oncogenic Osteomalacia and for the utility of serum FGF23 measurement and immunohistochemical detection of FGF23 in the diagnosis and clinical management of this condition.

  • diagnosis of a patient with oncogenic Osteomalacia using a phosphate uptake bioassay of serum and magnetic resonance imaging
    European Journal of Endocrinology, 2001
    Co-Authors: Anne E. Nelson, Jeremy J Hogan, Erin A Martin, Gunnar Åström, Hakan Ahlstrom, Kenneth B Jonsson, Tobias E Larsson, Rebecca S Mason, Bruce G. Robinson, Lars Wibell
    Abstract:

    A previously healthy man with no family history of fractures presented with muscle pain, back pain and height loss. Investigations revealed hypophosphataemia, phosphaturia, undetectable serum 1,25-dihydroxyvitamin D and severe Osteomalacia on bone biopsy, suggestive of a diagnosis of oncogenic Osteomalacia. Thorough physical examination did not locate a tumour. Support for the diagnosis was obtained by detection of phosphate uptake inhibitory activity in a blinded sample of the patient's serum using a renal cell bioassay. On the basis of detection of this bioactivity, a total body magnetic resonance (MR) examination was performed. A small tumour was located in the right leg. Removal of the tumour resulted in the rapid reversal of symptoms and the abnormal biochemistry typical of oncogenic Osteomalacia. Inhibitory activity was also demonstrated using the bioassay in serum from two other patients with confirmed or presumptive oncogenic Osteomalacia, but not in serum from two patients with hypophosphataemia of other origin. This is the first case to be reported in which the diagnosis of oncogenic Osteomalacia was assisted by demonstration of inhibitory activity of the patient's serum in a renal cell phosphate bioassay that provided an impetus for total body MR imaging.

  • tumor expression studies indicate that hem 1 is unlikely to be the active factor in oncogenic Osteomalacia
    Bone, 1998
    Co-Authors: Jeremy J Hogan, Terrence H Diamond, Anne E. Nelson, Rebecca S Mason, Bruce G. Robinson
    Abstract:

    Abstract HEM-1 was isolated as a putative factor responsible for oncogenic Osteomalacia by Kumar et al. (Proc Assoc Am Phys 107:296–305; 1995). The cDNA was identified on the basis of PTH-like immunoreactivity; however, no studies have been reported of the expression of HEM-1 mRNA in oncogenic Osteomalacia tumors. In this study, expression of HEM-1 mRNA was investigated in two oncogenic Osteomalacia tumors and in a series of normal tissues. An HEM-1 PCR product was amplified from a cDNA library from one of the tumors, with six base changes identified, as compared with the published sequence. No expression was detected, however, in the oncogenic Osteomalacia tumors either by Northern blot analysis or by reverse transcriptase PCR. This indicates that, although a region of HEM-1 sequence is present in the tumor cell cDNA library, any HEM-1 expression must be at very low levels. It is unlikely, therefore, that the HEM-1 product is the active factor responsible for oncogenic Osteomalacia. In the normal tissues examined, human placenta, fibroblasts, parathyroid gland, liver, fetal bone, and rat kidney cortex, HEM-1 mRNA was not detected, suggesting that it does not have a physiological role in these tissues.

  • oncogenic Osteomalacia is there a new phosphate regulating hormone
    Clinical Endocrinology, 1997
    Co-Authors: Anne E. Nelson, Rebecca S Mason, Bruce G. Robinson
    Abstract:

    Oncogenic Osteomalacia is a syndrome associated with rare, usually mesenchymal tumours, which is characterized by hypophosphataemia, phosphaturia and low concentrations of 1,25-dihydroxyvitamin D. The reversal of clinical and biochemical abnormalities following removal of the tumour, indicates it is the source of a humoral factor that is responsible for these abnormalities. It has been demonstrated that the humoral factor inhibits renal phosphate uptake and reduces 1,25-dihydroxyvitamin D production. Although there is evidence that it may act via parathyroid hormone/parathyroid hormone-related peptide receptors and may be a peptide, the factor has not yet been identified, nor has its relationship to factors involved in X-linked hypophosphataemic rickets been established. We propose unifying hypotheses for the pathogenesis of oncogenic Osteomalacia and X-linked hypophosphataemic rickets which involve defects in the PEX gene. These hypotheses do not fully explain all the available data and it remains possible that hormone(s) with little or no role in X-linked hypophosphataemic rickets may be responsible for oncogenic Osteomalacia.

Seiji Fukumoto - One of the best experts on this subject based on the ideXlab platform.

  • pathogenesis and diagnostic criteria for rickets and Osteomalacia proposal by an expert panel supported by the ministry of health labour and welfare japan the japanese society for bone and mineral research and the japan endocrine society
    Journal of Bone and Mineral Metabolism, 2015
    Co-Authors: Seiji Fukumoto, Ryo Okazaki, Yasuhiro Takeuchi, Keiichi Ozono, Toshimi Michigami, Masanori Minagawa, Toshitsugu Sugimoto, Toshio Matsumoto
    Abstract:

    Rickets and Osteomalacia are diseases characterized by impaired mineralization of bone matrix. Recent investigations have revealed that the causes of rickets and Osteomalacia are quite variable. Although these diseases can severely impair the quality of life of affected patients, rickets and Osteomalacia can be completely cured or at least respond to treatment when properly diagnosed and treated according to the specific causes. On the other hand, there are no standard criteria to diagnose rickets or Osteomalacia nationally and internationally. Therefore, we summarize the definition and pathogenesis of rickets and Osteomalacia, and propose diagnostic criteria and a flowchart for the differential diagnosis of various causes of these diseases. We hope that these criteria and the flowchart are clinically useful for the proper diagnosis and management of these diseases.

  • pathogenesis and diagnostic criteria for rickets and Osteomalacia proposal by an expert panel supported by ministry of health labour and welfare japan the japanese society for bone and mineral research and the japan endocrine society opinion
    Endocrine Journal, 2015
    Co-Authors: Seiji Fukumoto, Ryo Okazaki, Yasuhiro Takeuchi, Keiichi Ozono, Toshimi Michigami, Masanori Minagawa, Toshitsugu Sugimoto, Toshio Matsumoto
    Abstract:

    Rickets and Osteomalacia are diseases characterized by impaired mineralization of bone matrix. Recent investigations have revealed that the causes of rickets and Osteomalacia are quite variable. Although these diseases can severely impair the quality of life of affected patients, rickets and Osteomalacia can be completely cured or at least respond to treatment when properly diagnosed and treated according to the specific causes. On the other hand, there are no standard criteria to diagnose rickets or Osteomalacia nationally and internationally. Therefore, we summarize the definition and pathogenesis of rickets and Osteomalacia, and propose diagnostic criteria and a flowchart for the differential diagnosis of various causes of these diseases. We hope that these criteria and the flowchart are clinically useful for the proper diagnosis and management of these diseases.

  • pathogenesis and diagnostic criteria for rickets and Osteomalacia proposal by an expert panel supported by ministry of health labour and welfare japan the japanese society for bone and mineral research and the japan endocrine society opinion
    Endocrine Journal, 2015
    Co-Authors: Seiji Fukumoto, Ryo Okazaki, Yasuhiro Takeuchi, Keiichi Ozono, Toshimi Michigami, Masanori Minagawa, Toshitsugu Sugimoto, Toshio Matsumoto
    Abstract:

    Rickets and Osteomalacia are diseases characterized by impaired mineralization of bone matrix. Recent investigations revealed that the causes for rickets and Osteomalacia are quite variable. While these diseases can severely impair the quality of life of the affected patients, rickets and Osteomalacia can be completely cured or at least respond to treatment when properly diagnosed and treated according to the specific causes. On the other hand, there are no standard criteria to diagnose rickets or Osteomalacia nationally and internationally. Therefore, we summarize the definition and pathogenesis of rickets and Osteomalacia, and propose the diagnostic criteria and a flowchart for the differential diagnosis of various causes for these diseases. We hope that these criteria and flowchart are clinically useful for the proper diagnosis and management of patients with these diseases.

  • a patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in enpp1 gene
    Bone, 2011
    Co-Authors: T. Saito, Manabu Taguchi, Yuichiro Shimizu, Seiji Fukumoto, Michiko Hori, Takashi Igarashi, Toshiro Fujitab
    Abstract:

    Abstract X-linked hypophosphatemic rickets/Osteomalacia (XLH), autosomal dominant hypophosphatemic rickets/Osteomalacia (ADHR) and autosomal recessive hypophosphatemic rickets/Osteomalacia (ARHR1 or ARHR2) are hereditary fibroblast growth factor 23 (FGF23)-related hypophosphatemic rickets showing similar clinical features. We here show a patient with hypophosphatemic rickets and widespread ossification of posterior longitudinal ligament (OPLL). The proband is a 62-year-old female. Her parents are first cousins and showed no signs of rickets or Osteomalacia. She showed hypophosphatemic rickets with elevated FGF23 level and had been clinically considered to be suffering from XLH. However, direct sequencing of all coding exons and exon–intron junctions of phosphate regulating gene with homologies to endopeptidases on the X chromosome (PHEX) , FGF23 and dentin matrix protein 1 (DMP1) genes, responsible genes for XLH, ADHR and ARHR1, respectively, showed no mutation. A novel homozygous splice donor site mutation was found at the exon–intron junction of exon 21 of ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene responsible for ARHR2 (IVS21 + 1_3(GTA > CACC)). Subsequent analysis of mRNA revealed that this mutation caused skipping of exon 21 which created a premature stop codon in exon 22. These results indicate that genetic analysis is mandatory for the correct diagnosis of hereditary FGF23-related hypophosphatemic rickets. Because Enpp1 knockout mouse is a model of OPLL, this case also suggests that OPLL is associated with ARHR2.

  • diagnostic utility of magnetic resonance imaging skeletal survey in a patient with oncogenic Osteomalacia
    Bone, 1999
    Co-Authors: Seiji Fukumoto, Yasuhiro Takeuchi, A Nagano, Toshiro Fujita
    Abstract:

    Oncogenic Osteomalacia is a rare paraneoplastic syndrome characterized by hypophosphatemic Osteomalacia due to renal phosphate wasting. The same biochemical features are found in patients with X-linked hypophosphatemic rickets/Osteomalacia and sporadic hypophosphatemic Osteomalacia with unknown etiology. Oncogenic Osteomalacia is cured by resection of the responsible tumor. In contrast, patients with other types of hypophosphatemic rickets/Osteomalacia need long-term treatment with large doses of active vitamin D3. Therefore, detection of the responsible tumor for oncogenic Osteomalacia has great clinical importance. However, there is no standard method for detecting the tumor for oncogenic Osteomalacia, and the responsible tumor is often very difficult to be found. We describe a patient with adult-onset Osteomalacia due to renal phosphate wasting. Although oncogenic Osteomalacia was suspected, cranial, chest, and abdominal computed tomography scanning, urological and otolaryngological examinations, and detailed palpation for soft tissue mass failed to detect the responsible tumor. However, magnetic resonance imaging skeletal survey revealed a tumor in the right femoral bone. Resection of the tumor resulted in normalization of serum phosphate and renal phosphate handling. Because the most frequent causes for oncogenic Osteomalacia are tumors in bone or soft tissue, magnetic resonance imaging skeletal survey is a very powerful method for detecting the responsible tumor. Vigorous search for tumors with this method in patients with hypophosphatemic Osteomalacia would be helpful not only for proper management of patients, but also for clarifying the identity of sporadic hypophosphatemic Osteomalacia.

Kazuhiko Nakahara - One of the best experts on this subject based on the ideXlab platform.

  • venous sampling for fibroblast growth factor 23 confirms preoperative diagnosis of tumor induced Osteomalacia
    The Journal of Clinical Endocrinology and Metabolism, 2004
    Co-Authors: Yasuhiro Takeuchi, Yuji Yamazaki, Takeyoshi Yamashita, Hisanori Suzuki, Sayoko Ogura, Rie Imai, Yoshinari Miyamoto, Hiroshi Okazaki, Kozo Nakamura, Kazuhiko Nakahara
    Abstract:

    Tumor-induced Osteomalacia (TIO) is a paraneoplastic disorder characterized by hypophosphatemia, phosphaturia, inappropriately low serum levels of 1,25-dihydroxyvitamin D for hypophosphatemia, and skeletal undermineralization. Patients with TIO suffer from severe muscle weakness and pain. Because surgical removal of the responsible tumors is the only satisfactory treatment for TIO, identification of the tumors is clinically essential. However, because they are predominantly slow-growing neoplasms of benign mesenchymal origin, localization of the responsible tumors is often very difficult. Moreover, even if a tumor is found in a patient with hypophosphatemic Osteomalacia, we have had no way to know that the tumor is actually causing the disease. Fibroblast growth factor-23 (FGF-23) was recently identified as a causative factor for TIO and was shown to induce renal phosphate wasting. We have recently shown that the circulatory FGF-23 level was high in a patient with TIO and rapidly decreased after removal of the responsible tumor. For the first time, we describe a patient with adult-onset hypophosphatemic Osteomalacia in whom a clinical diagnosis of TIO was confirmed before surgical removal of the tumor by localizing the responsible tumor using venous sampling for FGF-23 together with magnetic resonance imaging. This combinatorial procedure would be clinically useful for sporadic cases of hypophosphatemic rickets/Osteomalacia. (J Clin Endocrinol Metab 89: 3979 –3982, 2004)

  • venous sampling for fibroblast growth factor 23 confirms preoperative diagnosis of tumor induced Osteomalacia
    The Journal of Clinical Endocrinology and Metabolism, 2004
    Co-Authors: Yasuhiro Takeuchi, Yuji Yamazaki, Takeyoshi Yamashita, Hisanori Suzuki, Sayoko Ogura, Rie Imai, Yoshinari Miyamoto, Hiroshi Okazaki, Kozo Nakamura, Kazuhiko Nakahara
    Abstract:

    Tumor-induced Osteomalacia (TIO) is a paraneoplastic disorder characterized by hypophosphatemia, phosphaturia, inappropriately low serum levels of 1,25-dihydroxyvitamin D for hypophosphatemia, and skeletal undermineralization. Patients with TIO suffer from severe muscle weakness and pain. Because surgical removal of the responsible tumors is the only satisfactory treatment for TIO, identification of the tumors is clinically essential. However, because they are predominantly slow-growing neoplasms of benign mesenchymal origin, localization of the responsible tumors is often very difficult. Moreover, even if a tumor is found in a patient with hypophosphatemic Osteomalacia, we have had no way to know that the tumor is actually causing the disease. Fibroblast growth factor-23 (FGF-23) was recently identified as a causative factor for TIO and was shown to induce renal phosphate wasting. We have recently shown that the circulatory FGF-23 level was high in a patient with TIO and rapidly decreased after removal of the responsible tumor. For the first time, we describe a patient with adult-onset hypophosphatemic Osteomalacia in whom a clinical diagnosis of TIO was confirmed before surgical removal of the tumor by localizing the responsible tumor using venous sampling for FGF-23 together with magnetic resonance imaging. This combinatorial procedure would be clinically useful for sporadic cases of hypophosphatemic rickets/Osteomalacia.

  • increased circulatory level of biologically active full length fgf 23 in patients with hypophosphatemic rickets Osteomalacia
    The Journal of Clinical Endocrinology and Metabolism, 2002
    Co-Authors: Yuji Yamazaki, Minako Shibata, Ryo Okazaki, Yukihiro Hasegawa, Kohei Satoh, Toshiro Fujita, Toshihiro Tajima, Yasuhiro Takeuchi, Kazuhiko Nakahara, Takeyoshi Yamashita
    Abstract:

    Hypophosphatemic rickets/Osteomalacia with inappropriately low serum 1,25-dihidroxyvitamin D level is commonly observed in X-linked hypophosphatemic rickets/Osteomalacia, autosomal dominant hypophosphatemic rickets/Osteomalacia and tumor-induced Osteomalacia. Although the involvement of a newly identified factor, FGF-23, in the pathogenesis of ADHR and TIO has been suggested, clinical evidence indicating the role of FGF-23 has been lacking. We have previously shown that FGF-23 is cleaved between Arg179 and Ser180, and this processing abolished biological activity of FGF-23 to induce hypophosphatemia. Therefore, sandwich ELISA for biologically active intact human FGF-23 was developed using two kinds of monoclonal antibodies that requires the simultaneous presence of both the N-terminal and C-terminal portion of FGF-23. The serum levels of FGF-23 in healthy adults were measurable and ranged from 8.2 to 54.3 ng/L. In contrast, those in a patient with TIO were over 200 ng/L. After the resection of the respons...

Toshio Matsumoto - One of the best experts on this subject based on the ideXlab platform.

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