Bone Reports (Dec 2023)
Canakinumab in addition to phosphate-binding and phosphaturia-inducing therapy were effective in achieving remission in a child with a large familial calcinotic tumour
- Maria Ochoa,
- Roman Jurencak,
- Kevin Smit,
- Sasha Carsen,
- Sarah L. Sawyer,
- Marie-Eve Robinson,
- Karine Khatchadourian,
- Hooi Peng Cheng,
- Marika Pagé,
- Joel Werier,
- Leanne Marie Ward
Affiliations
- Maria Ochoa
- 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
- Roman Jurencak
- Department of Pediatrics, University of Ottawa, Division of Pediatric Rheumatology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
- Kevin Smit
- 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
- Sasha Carsen
- 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
- Sarah L. Sawyer
- Department of Pediatrics, University of Ottawa, Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
- Marie-Eve Robinson
- 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
- Karine Khatchadourian
- 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
- Hooi Peng Cheng
- 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
- Marika Pagé
- 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
- Joel Werier
- 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
- Leanne Marie Ward
- 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; Corresponding author at: The Ottawa Pediatric Bone Health Research Group, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
- Journal volume & issue
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Vol. 19
p. 101695
Abstract
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.
