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    Indian J Endocrinol Metab. 2012 Mar;16(2):177-82. doi: 10.4103/2230-8210.93733.

    Hypophosphatemic rickets.

    Source

    Department of Endocrinology, Seth G. S. Medical College, Parel, Mumbai, India.

    Abstract

    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.

    PMID:
    22470852
    [PubMed]
    PMCID:
    PMC3313733
    Free PMC Article

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      • Hypophosphatemic rickets.
        Hypophosphatemic rickets.
        Indian J Endocrinol Metab. 2012 Mar ;16(2):177-82. doi: 10.4103/2230-8210.93733.
        PubMed

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