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Approach to Hypophosphatemic Rickets.
- Source :
-
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2022 Dec 17; Vol. 108 (1), pp. 209-220. - Publication Year :
- 2022
-
Abstract
- 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.<br /> (© The Author(s) 2022. Published by Oxford University Press on behalf of the Endocrine Society.)
- Subjects :
- Adult
Child
Child, Preschool
Humans
Fibroblast Growth Factors metabolism
Phosphates
Familial Hypophosphatemic Rickets diagnosis
Familial Hypophosphatemic Rickets drug therapy
Familial Hypophosphatemic Rickets genetics
Osteomalacia metabolism
Rickets, Hypophosphatemic etiology
Rickets, Hypophosphatemic genetics
Hypophosphatemia
Subjects
Details
- Language :
- English
- ISSN :
- 1945-7197
- Volume :
- 108
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- The Journal of clinical endocrinology and metabolism
- Publication Type :
- Academic Journal
- Accession number :
- 35981346
- Full Text :
- https://doi.org/10.1210/clinem/dgac488