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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 Ozden, Kadri Gurbuz

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY Cilt 14 · Sayı 2 · ss. 239–243 · 01.06.2022
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Özet

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.

Anahtar kelimeler

CHILDREN Acetazolamide Hyperphosphatemic familial tumoral calcinosis sodium thiosulphate tumoral calcinosis

Atıf için künye

Döneray, H., Ozden, A., & Gurbuz, K. (2022). 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. JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 14(2), 239–243. https://doi.org/10.4274/jcrpe.galenos.2021.2020.0269

BibTeX
@article{doneray2022-222664,
  author = {Döneray, Hakan and Ozden, Ayşe and Gurbuz, Kadri},
  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},
  journal = {JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY},
  year = {2022},
  volume = {14},
  number = {2},
  pages = {239--243},
  issn = {1308-5727},
  doi = {10.4274/jcrpe.galenos.2021.2020.0269},
  url = {https://akademik.atauni.edu.tr/yayinlar/222664-the-successful-treatment-of-deep-soft-tissue-calcifications-with-topical-sodium}
}