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THE SUCCESSFUL TREATMENT OF DEEP SOFT-TISSUE CALCIFICATIONS WITH TOPICAL SODIUM THIOSULPHATE AND ACETAZOLAMIDE IN A BOY WITH HYPERPHOSPHATEMIC FAMILIAL TUMORAL CALCINOSIS DUE TO A NOVEL MUTATION IN FGF23
HAKAN DÖNERAY, AYŞE ÖZDEN, KADRİ GÜRBÜZ
Journal of Clinical Research in Pediatric Endocrinology - 2022;14(2):239-243
Atatürk University Faculty of Medicine, Department of Pediatric Endocrinology, Erzurum, Turkey and Atatürk University, Clinical Research Development and Design Application and Research Center, Erzurum, Turkey

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.

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