Novel genetic mutation associated with hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome treated with denosumab: a case report
G. Fabbriciani,
A. Colombini,
C. Messina,
G. Adami
Affiliations
G. Fabbriciani
Complex Operative Unit of Medicine, Hospital of Asissi-USL Umbria 1, Assisi
A. Colombini
Laboratory of Applied Biotechnology in Orthopedics, IRCCS Galeazzi Orthopedic Institute, Milan
C. Messina
IRCCS Galeazzi Orthopedic Institute, Milan; Department of Biomedical Sciences for Health, University of Milan
G. Adami
Rheumatology Unit, Integrated University Hospital of Verona, University of Verona
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.
