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>

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.

Dergi

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY

Yıl

2022

Cilt

14

Sayı

2

Sayfa

239-243

ISSN

1308-5727

eISSN

1308-5735

DOI

10.4274/jcrpe.galenos.2021.2020.0269

WoS UID

WOS:000810938400013