Approach to Hypophosphatemic Rickets.
X-linked hypophosphatemia
burosumab
fibroblast growth factor 23
hypophosphatemia
rickets
Journal
The Journal of clinical endocrinology and metabolism
ISSN: 1945-7197
Titre abrégé: J Clin Endocrinol Metab
Pays: United States
ID NLM: 0375362
Informations de publication
Date de publication:
17 12 2022
17 12 2022
Historique:
received:
26
05
2022
pubmed:
19
8
2022
medline:
21
12
2022
entrez:
18
8
2022
Statut:
ppublish
Résumé
Hypophosphatemic rickets typically presents in infancy or early childhood with skeletal deformities and growth plate abnormalities. The most common causes are genetic (such as X-linked hypophosphatemia), and these typically will result in lifelong hypophosphatemia and osteomalacia. Knowledge of phosphate metabolism, including the effects of fibroblast growth factor 23 (FGF23) (an osteocyte produced hormone that downregulates renal phosphate reabsorption and 1,25-dihydroxyvitamin-D (1,25(OH)2D) production), is critical to determining the underlying genetic or acquired causes of hypophosphatemia and to facilitate appropriate treatment. Serum phosphorus should be measured in any child or adult with musculoskeletal complaints suggesting rickets or osteomalacia. Clinical evaluation incudes thorough history, physical examination, laboratory investigations, genetic analysis (especially in the absence of a guiding family history), and imaging to establish etiology and to monitor severity and treatment course. The treatment depends on the underlying cause, but often includes active forms of vitamin D combined with phosphate salts, or anti-FGF23 antibody treatment (burosumab) for X-linked hypophosphatemia. The purpose of this article is to explore the approach to evaluating hypophosphatemic rickets and its treatment options.
Identifiants
pubmed: 35981346
pii: 6671527
doi: 10.1210/clinem/dgac488
pmc: PMC9759174
doi:
Substances chimiques
Fibroblast Growth Factors
62031-54-3
Phosphates
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
209-220Subventions
Organisme : NIAMS NIH HHS
ID : P30 AR072581
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR002529
Pays : United States
Organisme : NIAMS NIH HHS
ID : P30AR072581
Pays : United States
Informations de copyright
© The Author(s) 2022. Published by Oxford University Press on behalf of the Endocrine Society.
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