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

ABSTRACT:

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 phosphate transporters - and reduced phosphate absorption in the intestines - due to impaired vitamin D activation. This results in impaired bone growth and mineralisation, short and disproportionate stature, leg bowing, musculoskeletal pain, spontaneous dental abscesses, rickets, and osteomalacia. The spectrum of manifestations differs between paediatric and adult patients. T

SUBMITTER: Padidela R 

PROVIDER: S-EPMC7329472 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature