The importance of early diagnosis of X-linked hypophosphatemic rickets: a case report
Abstract
X-linked hypophosphatemic rickets (XLH) is the commonest inherited form of rickets. XLH is caused by an impaired regulation of fibroblast growth factor 23 (FGF23) due to a PHEX gene mutation, leading to chronic renal phosphate excretion and impairment of vitamin D activation. Children with XLH show clinical signs of rickets, short stature, stunted growth, deformities of the lower limbs, bone and muscular pain, weakness and reduced quality of life.
XLH is a multisystem disease that requires a multidisciplinary approach, as patients may experience hearing loss, progressive bone deformities, recurrent dental and periodontal lesions. Burosumab, a fully human IgG1 monoclonal antibody to FGF23, represents the emerging gold standard treatment for XLH, whose effect appears to be significantly better clinically, biochemically and radiographically than conventional therapy. Early initiation of specific therapy improves the bone outcome of these individuals.
This report describes an emblematic case of an 11-year-old girl with lower limb varus and short stature in whom the diagnosis of XLH was made late. This case highlights the importance of including the evaluation and correct interpretation of calcium-phosphorus metabolism in the diagnostic work-up of short stature, with the aim of diagnosing cases of XLH at an early stage, initiating the most appropriate therapy, and avoiding surgical treatment if possible.
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DOI: https://doi.org/10.13129/1828-6550/APMB.112.1.2024.CCS4
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Copyright (c) 2024 Francesca Franchina, Fabio Toscano, Giovanni Luppino, Giorgia Pepe, Tommaso Aversa, Domenico Corica
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