Browsing by Author "Robinson, Marie -Eve"

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    Canakinumab in addition to phosphate-binding and phosphaturia-inducing therapy were effective in achieving remission in a child with a large familial calcinotic tumour
    (2023) Ochoa, Maria; Jurencak, Roman; Smit, Kevin; Carsen, Sasha; Sawyer, Sarah L.; Robinson, Marie -Eve; Khatchadourian, Karine; Cheng, Hooi Peng; Pag, Marika; Werier, Joel; Ward, Leanne Marie
    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-1 & beta; 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.