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      Hypophosphatemic osteomalacia in von Recklinghausen neurofibromatosis: Case report and literature review

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          Abstract

          Osteomalacia in neurofibromatosis is a rare entity and distinct from more common dysplastic skeletal affections of this disease. As a rule, it is characterized by later onset in adulthood. There is renal phosphate loss with hypophosphatemia and multiple pseudofractures in the typical cases. The hypophosphatemic conditions that interfere in bone mineralization comprise many hereditary or acquired diseases, all of them sharing the same pathophysiological mechanism-reduction in phosphate reabsorption by the renal tubuli. This process leads to chronic hyperphosphaturia and hypophosphatemia, associated with inappropriately normal or low levels of calcitriol, causing rickets in children and osteomalacia in adults.

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          FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting.

          FGF-23, a novel member of the FGF family, is the product of the gene mutated in autosomal dominant hypophosphatemic rickets (ADHR). FGF-23 has been proposed as a circulating factor causing renal phosphate wasting not only in ADHR (as a result of inadequate degradation), but also in tumor-induced osteomalacia (as a result of excess synthesis by tumor cells). Renal phosphate wasting occurs in approximately 50% of patients with McCune-Albright syndrome (MAS) and fibrous dysplasia of bone (FD), which result from postzygotic mutations of the GNAS1 gene. We found that FGF-23 is produced by normal and FD osteoprogenitors and bone-forming cells in vivo and in vitro. In situ hybridization analysis of FGF-23 mRNA expression identified "fibrous" cells, osteogenic cells, and cells associated with microvascular walls as specific cellular sources of FGF-23 in FD. Serum levels of FGF-23 were increased in FD/MAS patients compared with normal age-matched controls and significantly higher in FD/MAS patients with renal phosphate wasting compared with those without, and correlated with disease burden bone turnover markers commonly used to assess disease activity. Production of FGF-23 by FD tissue may play an important role in the renal phosphate-wasting syndrome associated with FD/MAS.
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            Oncogenic osteomalacia--a complex dance of factors.

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              Oncogenous osteomalacia. Review of the world literature of 42 cases and report of two new cases.

              The clinical and biochemical data in 42 reported cases of oncogenous osteomalacia are reviewed, and data in two previously unreported cases are recorded. It is likely that the syndrome is more common than suggested by the paucity of reports and may account for a substantial fraction of nonfamilial, adult-onset "idiopathic" osteomalacia. Tumors associated with the syndrome are characteristically benign, of mesenchymal origin, highly vascular, and composed principally of giant and spindle cells. Complete excision of tumors results in cure of the osteomalacia in the majority of patients. The syndrome presumably represents an instance of humor-induced phosphaturia but supporting experimental data are scanty. Plasma levels of 1,25-dihydroxycholecalciferol are uniformly low, and treatment with this metabolite is generally very effective; however, abnormal vitamin D metabolism cannot by itself account for the syndrome.
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                Author and article information

                Journal
                Indian J Radiol Imaging
                Indian J Radiol Imaging
                IJRI
                The Indian Journal of Radiology & Imaging
                Medknow Publications & Media Pvt Ltd (India )
                0971-3026
                1998-3808
                Jan-Mar 2015
                : 25
                : 1
                : 63-66
                Affiliations
                [1]Department of Radiodiagnosis, Sri Aurobindo Medical College and Post Graduate Institute, Indore, Madhya Pradesh, India
                Author notes
                Correspondence: Dr. Aman Gupta, 201 Dilpasand Avenue, 5/2 Manoramaganj, Indore - 452 001 Madhya Pradesh, India. E-mail: aman_sono@ 123456yahoo.co.in
                Article
                IJRI-25-63
                10.4103/0971-3026.150155
                4329691
                25709169
                eed05311-abe9-44ed-bd7d-b149ef470a5b
                Copyright: © Indian Journal of Radiology and Imaging

                This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Categories
                Musculoskeletal Radiology

                Radiology & Imaging
                hypophosphatemia,neurofibromatosis,osteomalacia,von recklinghausen disease
                Radiology & Imaging
                hypophosphatemia, neurofibromatosis, osteomalacia, von recklinghausen disease

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