Use of Teriparatide in Hyperphosphatemic Familial Tumor Calcinosis: Evaluating the Interaction Between FGF23 and PTH on the Phosphaturic Effect.
Calcinosis
/ drug therapy
Calcitriol
/ therapeutic use
Female
Fibroblast Growth Factors
/ genetics
Humans
Hyperostosis, Cortical, Congenital
Hyperphosphatemia
/ diagnosis
Hypophosphatemia, Familial
Middle Aged
N-Acetylgalactosaminyltransferases
/ genetics
Neoplasms
Phosphates
Phosphorus
Teriparatide
/ therapeutic use
Calcitriol
FGF23 resistance
GALNT3 mutation
Hypercalciuria
Phosphate
Journal
Calcified tissue international
ISSN: 1432-0827
Titre abrégé: Calcif Tissue Int
Pays: United States
ID NLM: 7905481
Informations de publication
Date de publication:
07 2022
07 2022
Historique:
received:
05
12
2021
accepted:
09
03
2022
pubmed:
27
3
2022
medline:
29
6
2022
entrez:
26
3
2022
Statut:
ppublish
Résumé
Hyperphosphatemic familial tumor calcinosis (HFTC) is a rare disease characterized by hyperphosphatemia and calcium and phosphorus crystal deposition. It occurs due to the loss of function of FGF23. Herein, we report a case of a 50-year-old woman diagnosed with HFTC (homozygous variant in the GALNT3 gene, c.803_804 C insertion) with a history of ectopic calcifications in the past 30 years. Laboratory tests on admission were as follows: phosphate (P) 7.1 mg/dL (Normal range (NR) 2.5-4.5 mg/dL), FGF23 c-terminal 2050 RU/mL (NR < 150 RU/mL), and intact FGF23 (iFGF23) 18.93 pg/mL (NR 12.0-69.0 pg/mL). Treatment with acetazolamide, sevelamer, and a phosphorus-restricted diet was started, but phosphatemia remained high and calcifications continued to progress. In an attempt to further decrease P, a 36-day cycle of teriparatide (TPTD) 20 mcg twice daily was added, decreasing P from 6.2 to 5.2 mg/dL and increasing the 1.25(OH)
Identifiants
pubmed: 35338393
doi: 10.1007/s00223-022-00969-x
pii: 10.1007/s00223-022-00969-x
doi:
Substances chimiques
Phosphates
0
Teriparatide
10T9CSU89I
Phosphorus
27YLU75U4W
Fibroblast Growth Factors
62031-54-3
N-Acetylgalactosaminyltransferases
EC 2.4.1.-
Calcitriol
FXC9231JVH
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
102-106Informations de copyright
© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
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