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
| Autor: | Kadri Gurbuz, Ayse Ozden, Hakan Doneray |
|---|---|
| Rok vydání: | 2022 |
| Předmět: |
Pathology
medicine.medical_specialty business.industry Endocrinology Diabetes and Metabolism Sodium chemistry.chemical_element Soft tissue Sodium thiosulfate medicine.disease Hyperphosphatemic Familial Tumoral Calcinosis chemistry.chemical_compound Endocrinology chemistry Pediatrics Perinatology and Child Health Mutation (genetic algorithm) medicine Tumoral calcinosis business Acetazolamide Novel mutation medicine.drug |
| Zdroj: | Journal of Clinical Research in Pediatric Endocrinology. 14:239-243 |
| ISSN: | 1308-5735 1308-5727 |
| DOI: | 10.4274/jcrpe.galenos.2021.2020.0269 |
| Popis: | 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 the 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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