ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 14 Issue: 3 Year: 2022
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Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
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 <i>FGF23</i> [J Clin Res Pediatr Endocrinol]
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, Ayşe Özden2, Kadri Gürbüz3
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

Hakan Döneray, Ayşe Özden, Kadri Gürbüz. 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. J Clin Res Pediatr Endocrinol. 2022; 14(2): 239-243

Corresponding Author: Hakan Döneray, Türkiye
Manuscript Language: English
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