Therapy-Resistant Hypercalcemia in a Patient with Inactivating CYP24A1 Mutation and Recurrent Nephrolithiasis: Beware of Concomitant Hyperparathyroidism.
Calcif Tissue Int
; 107(5): 524-528, 2020 11.
Article
em En
| MEDLINE
| ID: mdl-32743688
ABSTRACT
We describe a case harboring a homozygous CYP24A1 mutation with mild loss of function, first presenting with recurrent nephrolithiasis from the age of 22 onward, initially associated with hypercalcemia and low PTH concentrations. Over the years, hyperparathyroidism developed, resulting in more severe hypercalcemia. Also, kidney function deteriorated, most probably as a consequence of biopsy-proven nephrocalcinosis. Conventional treatment options for CYP24A1 mutation were not effective and/or tolerated (avoidance of sun exposure, diet, pamidronate, itraconazole). A total parathyroidectomy was performed resulting in a normocalcemic hypoparathyroidism without need for treatment with vitamin D analogs, a positive bone mineral balance and an improved kidney function.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Nefrolitíase
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Vitamina D3 24-Hidroxilase
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Hipercalcemia
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Hiperparatireoidismo
Limite:
Humans
Idioma:
En
Revista:
Calcif Tissue Int
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Bélgica