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: 872
PDF: 283
Publisher's note
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.
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
Copyright (c) 2024 the Author(s)
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Authors who publish with this journal agree to the following terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.
Similar Articles
- C. Pizzorni, M.E. Secchi, M. Cutolo, Leishmaniasis in rheumatoid arthritis , Reumatismo: Vol. 59 No. 3 (2007)
- S. Mancuso, M. De Michele, S. Truglia, A. Capozzi, L. Rapino, I. Berto, C. Alessandri, D. Toni, V. Manganelli, M. Sorice, F. Conti, Cryptogenic stroke and seronegative antiphospholipid syndrome: a case series of patients with positivity for “non-criteria” antiphospholipid antibodies , Reumatismo: Early Access
- A. Lo Monaco, F. Lanza, M. Dabusti, M. Padovan, R. La Corte, G. Castoldi, F. Trotta, Autologous stem cell transplantation in patient with diffuse systemic sclerosis , Reumatismo: Vol. 54 No. 4 (2002)
- L. Guarda Nardini, D. Manfredini, S. Berrone, G. Ferronato, Total temporomandibular joint prosthesis as a surgical option for severe mouth opening restriction. A case report of a bilateral intervention , Reumatismo: Vol. 59 No. 4 (2007)
- V. Bruzzese, C. Marrese, P. Scolieri, J. Pepe, Psoriatic spondyloarthritis and Sjögren syndrome: a casual association? , Reumatismo: Vol. 72 No. 3 (2020)
- V.F. Azevedo, C.F. Pietrovski, M. de Almeida Santos Jr, Acute toxoplasmosis infection in a patient with ankylosing spondylitis treated with adalimumab: a case report , Reumatismo: Vol. 62 No. 4 (2010)
- R. Tirri, D. Capocotta, Incidental papillary thyroid cancer diagnosis in patient with adult-onset Still’s disease-like manifestations , Reumatismo: Vol. 71 No. 1 (2019)
- E. Conticini, A. Negro, L. Magnani, R. Ugolini, B. Atienza-Mateo, B. Frediani, C. Salvarani, Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene , Reumatismo: Vol. 72 No. 1 (2020)
- G. Armocida, M. Broggini, Gout in Valchiavenna in the XVII century: a case report , Reumatismo: Vol. 59 No. 1 (2007)
- E. Boninsegna, A. Fassio, M. Testoni, D. Gatti, O. Viapiana, G. Mansueto, M. Rossini, Radiological features of knee joint synovial chondromatosis , Reumatismo: Vol. 71 No. 2 (2019)
<< < 10 11 12 13 14 15 16 17 18 19 > >>
You may also start an advanced similarity search for this article.
