Clinical and molecular characterization of Chilean patients with X-linked hypophosphatemia.

M JiménezD Ivanovic-ZuvicC LoureiroC A CarvajalG CavadaP SchneiderE GallardoC GarcíaG GonzalezO ContrerasM T CollinsPablo Florenzano

Published in: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA (2021)

Chilean patients with XLH have a high prevalence of musculoskeletal burden associated with pain and impaired physical capacity and QoL, especially in adults who were generally undertreated. These data identify a significant unmet need, inform our understanding of the current status of patients, and can guide care for XLH patients in similarly socioeconomically defined countries.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
current status
chronic pain
pain management
palliative care
risk factors
deep learning
patient reported outcomes
quality improvement
patient reported