Novel genetic mutation associated with hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome treated with denosumab: a case report.
Reumatismo
; 76(2)2024 Jun 24.
Article
em En
| MEDLINE
| ID: mdl-38916164
ABSTRACT
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Calcinose
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N-Acetilgalactosaminiltransferases
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Hiperfosfatemia
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Denosumab
Limite:
Female
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Humans
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Male
Idioma:
En
Revista:
Reumatismo
Ano de publicação:
2024
Tipo de documento:
Article