Article 2022 · 10 citations

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>

Doneray, Hakan, Ozden, Ayse, Gurbuz, Kadri

Abstract

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 mutation of FGF23.

Keywords

Hyperphosphatemic familial tumoral calcinosis sodium thiosulphate acetazolamide tumoral calcinosis children MISSENSE MUTATION

WoS Categories

Endocrinology & Metabolism Pediatrics

Sustainable Development Goals

Good Health and Well-being

Citation

Journal: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
Year: 2022
Volume: 14
Issue: 2
Pages: 239-243
ISSN: 1308-5727
eISSN: 1308-5735
DOI: 10.4274/jcrpe.galenos.2021.2020.0269
WoS UID: WOS:000810938400013

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