Hypophosphatemic rickets
Hypophosphatemic rickets is a disorder of bone mineralization caused due to defects (inherited/acquired) in the renal handling of phosphorus. This group includes varied conditions, X-linked hypophosphatemic rickets being the most common inheritable form of rickets. The other common forms are autosom...
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| Format: | Online |
| Language: | English |
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Medknow Publications & Media Pvt Ltd
2012
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3313733/ |
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pubmed-3313733 |
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oai_dc |
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pubmed-33137332012-04-02 Hypophosphatemic rickets Jagtap, Varsha S. Sarathi, Vijaya Lila, Anurag R. Bandgar, Tushar Menon, Padmavathy Shah, Nalini S. Review Article Hypophosphatemic rickets is a disorder of bone mineralization caused due to defects (inherited/acquired) in the renal handling of phosphorus. This group includes varied conditions, X-linked hypophosphatemic rickets being the most common inheritable form of rickets. The other common forms are autosomal dominant hypophosphatemic rickets and tumor-induced osteomalacia. Although these conditions exhibit different etiologies, increased phosphatonins form a common link among them. Fibroblast growth factor 23 (FGF23) is the most widely studied phosphatonin. Genetic studies tend to show that the phosphorus homeostasis depends on a complex osteo-renal axis, whose mechanisms have been poorly understood so far. Newer disorders are being added as the mechanisms in this axis get discovered. This review focuses on the clinical, biochemical, genetic features and management of hypophosphatemic disorders leading to defective mineralization. Medknow Publications & Media Pvt Ltd 2012 /pmc/articles/PMC3313733/ /pubmed/22470852 http://dx.doi.org/10.4103/2230-8210.93733 Text en Copyright: © Indian Journal of Endocrinology and Metabolism http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| repository_type |
Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
| building |
NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
Jagtap, Varsha S. Sarathi, Vijaya Lila, Anurag R. Bandgar, Tushar Menon, Padmavathy Shah, Nalini S. |
| spellingShingle |
Jagtap, Varsha S. Sarathi, Vijaya Lila, Anurag R. Bandgar, Tushar Menon, Padmavathy Shah, Nalini S. Hypophosphatemic rickets |
| author_facet |
Jagtap, Varsha S. Sarathi, Vijaya Lila, Anurag R. Bandgar, Tushar Menon, Padmavathy Shah, Nalini S. |
| author_sort |
Jagtap, Varsha S. |
| title |
Hypophosphatemic rickets |
| title_short |
Hypophosphatemic rickets |
| title_full |
Hypophosphatemic rickets |
| title_fullStr |
Hypophosphatemic rickets |
| title_full_unstemmed |
Hypophosphatemic rickets |
| title_sort |
hypophosphatemic rickets |
| description |
Hypophosphatemic rickets is a disorder of bone mineralization caused due to defects (inherited/acquired) in the renal handling of phosphorus. This group includes varied conditions, X-linked hypophosphatemic rickets being the most common inheritable form of rickets. The other common forms are autosomal dominant hypophosphatemic rickets and tumor-induced osteomalacia. Although these conditions exhibit different etiologies, increased phosphatonins form a common link among them. Fibroblast growth factor 23 (FGF23) is the most widely studied phosphatonin. Genetic studies tend to show that the phosphorus homeostasis depends on a complex osteo-renal axis, whose mechanisms have been poorly understood so far. Newer disorders are being added as the mechanisms in this axis get discovered. This review focuses on the clinical, biochemical, genetic features and management of hypophosphatemic disorders leading to defective mineralization. |
| publisher |
Medknow Publications & Media Pvt Ltd |
| publishDate |
2012 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3313733/ |
| _version_ |
1611517136172220416 |