{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T12:08:20Z","timestamp":1747224500061,"version":"3.40.5"},"reference-count":13,"publisher":"PAGEPress Publications","issue":"2","license":[{"start":{"date-parts":[[2024,6,24]],"date-time":"2024-06-24T00:00:00Z","timestamp":1719187200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Reumatismo"],"abstract":"<jats:p>In this case report, a novel N-acetylgalactosaminyltransferase 3 homozygous mutation (c.782 G&gt;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.<\/jats:p>","DOI":"10.4081\/reumatismo.2024.1687","type":"journal-article","created":{"date-parts":[[2024,6,24]],"date-time":"2024-06-24T13:14:25Z","timestamp":1719234865000},"source":"Crossref","is-referenced-by-count":0,"title":["Novel genetic mutation associated with hyperphosphatemic familial tumoral calcinosis\/hyperostosis-hyperphosphatemia syndrome treated with denosumab: a case report"],"prefix":"10.4081","volume":"76","author":[{"given":"G.","family":"Fabbriciani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1800-3424","authenticated-orcid":false,"given":"A.","family":"Colombini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Messina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8915-0755","authenticated-orcid":false,"given":"G.","family":"Adami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2549","published-online":{"date-parts":[[2024,6,24]]},"reference":[{"key":"7888","doi-asserted-by":"crossref","unstructured":"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":"10.1002\/jbm4.10185"},{"key":"7889","doi-asserted-by":"crossref","unstructured":"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":"10.24953\/turkjped.2019.01.022"},{"key":"7890","doi-asserted-by":"crossref","unstructured":"Ito N, Fukumoto S. Congenital hyperphosphatemic conditions caused by the deficient activity of FGF23. Calcif Tissue Int 2021; 108: 104-15.","DOI":"10.1007\/s00223-020-00659-6"},{"key":"7891","doi-asserted-by":"crossref","unstructured":"K\u0131\u015fla Ekinci RM, G\u00fcrb\u00fcz F, Balc\u0131 S, Bi\u015fgin A, Ta\u015ftan M, Y\u00fcksel 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":"10.4274\/jcrpe.galenos.2018.2018.0134"},{"key":"7892","doi-asserted-by":"crossref","unstructured":"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":"10.1016\/j.bone.2020.115401"},{"key":"7893","doi-asserted-by":"crossref","unstructured":"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":"10.1172\/JCI122004"},{"key":"7894","unstructured":"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\u00ae. Seattle: University of Washington, 1993-2024."},{"key":"7895","doi-asserted-by":"crossref","unstructured":"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":"10.1038\/ng1358"},{"key":"7896","doi-asserted-by":"crossref","unstructured":"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":"10.1359\/jbmr.070709"},{"key":"7897","doi-asserted-by":"crossref","unstructured":"Olsen KM, Chew FS. Tumoral calcinosis: pearls, polemics, and alternative possibilities. Radiographics 2006; 26: 871-85.","DOI":"10.1148\/rg.263055099"},{"key":"7898","doi-asserted-by":"crossref","unstructured":"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":"10.1159\/000197876"},{"key":"7899","doi-asserted-by":"crossref","unstructured":"Tiwari V, Goyal A, Nagar M, Santoshi JA. Hyperphosphataemic tumoral calcinosis. Lancet 2019; 393: 168.","DOI":"10.1016\/S0140-6736(18)33045-9"},{"key":"7900","doi-asserted-by":"crossref","unstructured":"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":"10.1002\/jbmr.3821"}],"container-title":["Reumatismo"],"original-title":[],"link":[{"URL":"https:\/\/www.reumatismo.org\/reuma\/article\/download\/1687\/1026","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.reumatismo.org\/reuma\/article\/download\/1687\/1026","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,24]],"date-time":"2024-06-24T13:14:47Z","timestamp":1719234887000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.reumatismo.org\/reuma\/article\/view\/1687"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,24]]},"references-count":13,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,6,24]]}},"URL":"https:\/\/doi.org\/10.4081\/reumatismo.2024.1687","relation":{},"ISSN":["2240-2683","0048-7449"],"issn-type":[{"type":"electronic","value":"2240-2683"},{"type":"print","value":"0048-7449"}],"subject":[],"published":{"date-parts":[[2024,6,24]]}}}