Familial hyperphosphatemic tumoral calcinosis in an unusual and usual sites and dramatic improvement with the treatment of acetazolamide, sevelamer and topical sodium thiosulfate

ŞANLI M. E., KILIÇ A., ÖZSAYDI AKTAŞOĞLU E., İNCİ A., OKUR İ., Ezgu F. S., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.34, sa.6, ss.813-816, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 34 Sayı: 6
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1515/jpem-2020-0359
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.813-816
  • Anahtar Kelimeler: acetazolamide, hyperphosphatemic tumoral calcinosis, sevelamer, sodium thiosulfate, MISSENSE MUTATION, GALNT3, FGF23
  • Gazi Üniversitesi Adresli: Evet

Özet

Objectives: Familial hyperphosphatemic tumoral calcinosis is a rare disorder characterized by hyperphosphatemia with recurrent ectopic periarticular calcifications, in addition to other visceral and vascular manifestations, without any inflammatory or neoplastic disorder. The available treatment strategies are limited. Herewe report an eight year old female patient with recurrent lesions under the chin, and bilateral hips which are painful and improving of the size of the lesions and hyperphosphatemia.