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

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...

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Detalles Bibliográficos
Autores principales: Döneray, Hakan, Özden, Ayşe, Gürbüz, Kadri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9176085/
https://www.ncbi.nlm.nih.gov/pubmed/33685073
http://dx.doi.org/10.4274/jcrpe.galenos.2021.2020.0269
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author Döneray, Hakan
Özden, Ayşe
Gürbüz, Kadri
author_facet Döneray, Hakan
Özden, Ayşe
Gürbüz, Kadri
author_sort Döneray, Hakan
collection PubMed
description 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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spelling pubmed-91760852022-06-17 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 Döneray, Hakan Özden, Ayşe Gürbüz, Kadri J Clin Res Pediatr Endocrinol Case Report 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. Galenos Publishing 2022-06 2022-06-07 /pmc/articles/PMC9176085/ /pubmed/33685073 http://dx.doi.org/10.4274/jcrpe.galenos.2021.2020.0269 Text en ©Copyright 2022 by Turkish Pediatric Endocrinology and Diabetes Society | The Journal of Clinical Research in Pediatric Endocrinology published by Galenos Publishing House. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Döneray, Hakan
Özden, Ayşe
Gürbüz, Kadri
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
title 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9176085/
https://www.ncbi.nlm.nih.gov/pubmed/33685073
http://dx.doi.org/10.4274/jcrpe.galenos.2021.2020.0269
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