Exploring foci of:
Journal of the Endocrine Society • Vol 8 • No Supplement_1
12324 Clinical Features And PHEX Variants Of Adults With X-Linked Hypophosphatemia
October 2024 • Luciana Pinto Valadares, Débora Rafaelli de Carvalho, Fernanda Sousa Cardoso Lopes, Rafael S. Oliveira, L G Castro
Abstract Disclosure: L.P. Valadares: None. D.R. Carvalho: None. F.S. Lopes: None. R.S. Oliveira: None. L.G. Castro: None. X-linked hypophosphatemia (XLH), caused by loss-of-function PHEX mutations, is a lifelong renal phosphate-wasting disorder and the main cause of inherited hypophosphatemia. In adults, chronic hypophosphatemia leads to impaired bone mineralization and persistent osteomalacia. Short stature, lower limb deformities and musculoskeletal chronic pain can significantly impact the daily lives of affect…
Aphex Twin
Hypophosphatemia
Medicine
Internal Medicine
Rickets