Searchable abstracts of presentations at key conferences on calcified tissues

ba0004p198 | (1) | ICCBH2015

Impaired mobility and pain significantly impact the quality of life of children with X-linked hypophosphatemia

Linglart Agnes , Dvorak-Ewell Melita , Marshall Ayla , Martin Javier San , Skrinar Alison

X-linked Hypophosphatemia (XLH), the most common heritable form of rickets, is a disorder of renal phosphate wasting caused by high circulating levels of fibroblast growth factor 23 (FGF23) that impairs normal phosphate reabsorption in the kidney and production of the active form of vitamin D. Affected children present with hypophosphatemia resulting in rickets, bowing of the legs and short stature. Limited information is available about the disease burden in children with XLH...