1.
J Clin Res Pediatr Endocrinol
; 14(2): 239-243, 2022 06 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33685073
RESUMO
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disorder. Topical sodium thiosulfate (STS) and acetazolamide can be a safe and effective treatment for patients who do not respond to conventional therapy for ectopic calcifications. We report the successful treatment of deep soft-tissue calcifications with topical STS and acetazolamide in a boy diagnosed with HFTC due to a novel homozygous mutation of FGF23.