J Clin Res Pediatr Endocrinol. 2022; 14(2): 239-243 | DOI: 10.4274/jcrpe.galenos.2021.2020.0269

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 Döneray¹, Ayþe Özden², Kadri Gürbüz^3
1Atatürk University Faculty of Medicine, Department of Pediatric Endocrinology, Erzurum, Turkey and Atatürk University, Clinical Research Development and Design Application and Research Center, Erzurum, Turkey
²Atatürk University Faculty of Medicine, Department of Pediatric Endocrinology, Erzurum, Turkey
³Atatürk University Faculty of Medicine, Department of Pediatrics, 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.

Keywords: Hyperphosphatemic familial tumoral calcinosis, sodium thiosulphate, acetazolamide, tumoral calcinosis, children

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