https://doi.org/10.4081/reumatismo.2024.1687
Novel genetic mutation associated with hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome treated with denosumab: a case report
Submitted: 29 November 2023
Accepted: 2 April 2024
Published: 24 June 2024
Accepted: 2 April 2024
Abstract Views: 788
PDF: 234
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Authors
In this case report, a novel N-acetylgalactosaminyltransferase 3 homozygous mutation (c.782 G>A; p.R261Q) associated with hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome is described. The patient had elbow, pelvis, and lower limb pain and a hard mass in the hip and olecranon regions. Increased levels of inorganic phosphorus (Pi) and C-reactive protein were observed. After treating the patient with conventional drugs, we tested denosumab, which reduced but did not normalize the Pi.
Dauchez A, Souffir C, Quartier P, Baujat G, Briot K, Roux C. Hyperphosphatemic familial tumoral calcinosis with Galnt3 mutation: transient response to anti-interleukin-1 treatments. JBMR Plus 2019; 3: e10185.
DOI: https://doi.org/10.1002/jbm4.10185
Albaramki J, Dmour H, Shboul M, Bonnard C, Venkatesh B, Odeh R. Recessive mutation in galnt3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis. Turk J Pediatr 2019; 61: 130-3.
DOI: https://doi.org/10.24953/turkjped.2019.01.022
Ito N, Fukumoto S. Congenital hyperphosphatemic conditions caused by the deficient activity of FGF23. Calcif Tissue Int 2021; 108: 104-15.
DOI: https://doi.org/10.1007/s00223-020-00659-6
Kışla Ekinci RM, Gürbüz F, Balcı S, Bişgin A, Taştan M, Yüksel B, et al. Hyperphosphatemic familial tumoral calcinosis in two siblings with a novel mutation in GALNT3 gene: experience from southern Turkey. J Clin Res Pediatr Endocrinol 2019; 11: 94-9.
DOI: https://doi.org/10.4274/jcrpe.galenos.2018.2018.0134
Liu C, Pang Q, Jiang Y, Xia Y, Fang L, Wang O, et al. Defective O-glycosylation of novel FGF23 mutations in a Chinese family with hyperphosphatemic familial tumoral calcinosis. Bone 2020; 137: 115401.
DOI: https://doi.org/10.1016/j.bone.2020.115401
Roberts MS, Burbelo PD, Egli-Spichtig D, Perwad F, Romero CJ, Ichikawa S, et al. Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies. J Clin Invest 2018; 128: 5368-73.
DOI: https://doi.org/10.1172/JCI122004
Ramnitz MS, Gafni RI, Collins MT. Hyperphosphatemic familial tumoral calcinosis. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, Gripp KW, et al., editors. GeneReviews®. Seattle: University of Washington, 1993-2024.
Topaz O, Shurman DL, Bergman R, Indelman M, Ratajczak P, Mizrachi M, et al. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet 2004; 36: 579-81.
DOI: https://doi.org/10.1038/ng1358
Hayashibara T, Hiraga T, Sugita A, Wang L, Hata K, Ooshima T, et al. Regulation of osteoclast differentiation and function by phosphate: potential role of osteoclasts in the skeletal abnormalities in hypophosphatemic conditions. J Bone Miner Res 2007; 22: 1743-51.
DOI: https://doi.org/10.1359/jbmr.070709
Olsen KM, Chew FS. Tumoral calcinosis: pearls, polemics, and alternative possibilities. Radiographics 2006; 26: 871-85.
DOI: https://doi.org/10.1148/rg.263055099
Lammoglia JJ, Mericq V. Familial tumoral calcinosis caused by a novel FGF23 mutation: response to induction of tubular renal acidosis with acetazolamide and the non-calcium phosphate binder sevelamer. Horm Res Paediatr 2009; 71: 178-84.
DOI: https://doi.org/10.1159/000197876
Tiwari V, Goyal A, Nagar M, Santoshi JA. Hyperphosphataemic tumoral calcinosis. Lancet 2019; 393: 168.
DOI: https://doi.org/10.1016/S0140-6736(18)33045-9
Miyaoka D, Inaba M, Imanishi Y, Hayashi N, Ohara M, Nagata Y, et al. Denosumab improves glomerular filtration rate in osteoporotic patients with normal kidney function by lowering serum phosphorus. J Bone Miner Res 2019; 34: 2028-35.
DOI: https://doi.org/10.1002/jbmr.3821
How to Cite
Fabbriciani, G., Colombini, A., Messina, C., & Adami, G. (2024). Novel genetic mutation associated with hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome treated with denosumab: a case report. Reumatismo, 76(2). https://doi.org/10.4081/reumatismo.2024.1687
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