Canakinumab in addition to phosphate-binding and phosphaturia-inducing therapy were effective in achieving remission in a child with a large familial calcinotic tumour.

Autor:	Ochoa M; The Ottawa Pediatric Bone Health Research Group, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Endocrinology Unit, Division of Pediatrics, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.; Pediatric Genetic and Metabolic Bone Disorders Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Jurencak R; Department of Pediatrics, University of Ottawa, Division of Pediatric Rheumatology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Smit K; The Ottawa Pediatric Bone Health Research Group, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Department of Surgery, University Of Ottawa, Division of Pediatric Orthopedic Surgery, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Carsen S; The Ottawa Pediatric Bone Health Research Group, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Pediatric Genetic and Metabolic Bone Disorders Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Sawyer SL; Department of Pediatrics, University of Ottawa, Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Robinson ME; The Ottawa Pediatric Bone Health Research Group, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Pediatric Genetic and Metabolic Bone Disorders Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Department of Pediatrics, University Of Ottawa, Division of Endocrinology and Metabolism, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Khatchadourian K; The Ottawa Pediatric Bone Health Research Group, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Pediatric Genetic and Metabolic Bone Disorders Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Department of Pediatrics, University Of Ottawa, Division of Endocrinology and Metabolism, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Cheng HP; The Ottawa Pediatric Bone Health Research Group, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Pediatric Genetic and Metabolic Bone Disorders Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Pagé M; The Ottawa Pediatric Bone Health Research Group, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Pediatric Genetic and Metabolic Bone Disorders Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Werier J; Pediatric Genetic and Metabolic Bone Disorders Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Department of Surgery, University Of Ottawa, Division of Adult Orthopedic Surgery, The Ottawa General Hospital, Ottawa, Ontario, Canada., Ward LM; The Ottawa Pediatric Bone Health Research Group, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Pediatric Genetic and Metabolic Bone Disorders Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Department of Pediatrics, University Of Ottawa, Division of Endocrinology and Metabolism, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Jazyk:	angličtina
Zdroj:	Bone reports [Bone Rep] 2023 Jun 15; Vol. 19, pp. 101695. Date of Electronic Publication: 2023 Jun 15 (Print Publication: 2023).
DOI:	10.1016/j.bonr.2023.101695
Abstrakt:	We describe the clinical evolution of a patient with tumoral calcinosis due to a pathogenic variant in the GALNT3 gene presented with a large mass overlying her left hip associated complicated by inflammatory flares. Therapy (sevelamer, acetazolamide, and probenecid) was unsuccessful in preventing tumour surgeries, therefore, interleukin-1β monoclonal antibody therapy was added; this was successful in the prevention of tumour re-growth. This case highlights the importance of assessing and treating the inflammatory aspect of calcinotic tumour. Competing Interests: LMW has participated in clinical trials with ReveraGen, Ascendis, PTC, Catabasis, Novartis, Ultragenyx and Amgen, received unrestricted educational grants from Alexion, Ipsen and Ultragenyx, and received consulting fees from Santhera, Ipsen, Ultragenyx, PTC, Novartis, and Amgen (with funds to LMW's institution). MER has participated in clinical trials with Amgen. SC has received research grant funding from Zimmer Biomet and ConMed Linvatec, consulting fees for assisting with surgical training from Stryker and Smith & Nephew, and has participated in a clinical trial with Ascendis Biopharma (with funds to SC's institution). KS has consulted for Medtronic and has received research grants from Meditronics, Ascendis and SpinoModulation (All funds to Dr. Smit's institution). The other co-authors have no competing interests to declare. (© 2023 The Authors.)
Databáze:	MEDLINE
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