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Войти в исследования Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.
X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic rickets and osteomalacia. In this disease, mutations in the PHEX gene lead to elevated levels of the hormone fibroblast growth factor 23 (FGF23), resulting in renal phosphate wasting and impaired skeletal and dental mineralization. Recently, international guidelines for the diagnosis and treatment of this condition have been published. However, more specific recommendations are needed to provide guidance at the national level, considering resource availability and health economic aspects. A national multidiscip
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… Some clinical features distinctive for this form of hypophosphatemic rickets are dental abscesses and enthesopathy, which may present to rheumatologists and are sometimes mistaken for spondylarthropathies.
Hypophosphatemic rickets has a wide differential diagnosis ( Table 1 ). …
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