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The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study

30 Jun 2020

Abstract excerpt

BACKGROUND: X-linked hypophosphataemia (XLH) is a rare, hereditary, progressive and lifelong phosphate wasting disorder characterised by pathological elevations in fibroblast growth factor (FGF) 23 concentration and activity; XLH has an incidence of approximately 1 in 20-25,000 individuals. Excess FGF23 activity leads to increased phosphate excretion in the kidneys - mediated by downregulation of renal tubular...

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PMID: 32605590
DOI: 10.1186/s13023-020-01434-4

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