Nationwide Turkish Cohort Study of Hypophosphatemic Rickets
Adolescent
Calcitriol
/ administration & dosage
Calcium-Regulating Hormones and Agents
/ administration & dosage
Child
Child, Preschool
Cohort Studies
Drug Therapy, Combination
Female
Follow-Up Studies
Humans
Infant
Male
Outcome Assessment, Health Care
PHEX Phosphate Regulating Neutral Endopeptidase
/ genetics
Phosphates
/ administration & dosage
Rickets, Hypophosphatemic
/ blood
Turkey
PHEX
treatment
Hypophosphatemic rickets
Journal
Journal of clinical research in pediatric endocrinology
ISSN: 1308-5735
Titre abrégé: J Clin Res Pediatr Endocrinol
Pays: Turkey
ID NLM: 101519456
Informations de publication
Date de publication:
03 06 2020
03 06 2020
Historique:
entrez:
14
9
2019
pubmed:
14
9
2019
medline:
9
3
2021
Statut:
ppublish
Résumé
Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect treatment options. Here we present nationwide initial and follow-up data on HR. From 24 centers, 166 patients were included in the study. Genetic analysis (n=75) showed HR treatment and follow-up is challenging and our results showed higher treatment doses were associated with NC without any change in serum phosphate levels, suggesting that giving higher doses led to increased phosphaturia, probably through stimulation of fibroblast growth factor 23. However, higher calcitriol doses could improve bone deformities. Safer and more efficacious therapies are needed.
Identifiants
pubmed: 31514490
doi: 10.4274/jcrpe.galenos.2019.2019.0098
pmc: PMC7291408
doi:
Substances chimiques
Calcium-Regulating Hormones and Agents
0
Phosphates
0
PHEX Phosphate Regulating Neutral Endopeptidase
EC 3.4.24.-
PHEX protein, human
EC 3.4.24.-
Calcitriol
FXC9231JVH
Types de publication
Journal Article
Langues
eng
Pagination
150-159Références
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