Multidisciplinary patient care in X-linked hypophosphatemic rickets: one challenge, many perspectives.

ABSTRACT: X‑linked hypophosphatemic rickets (XLH, OMIM #307800) is a rare genetic metabolic disorder caused by dysregulation of fibroblast-like growth factor 23 (FGF23) leading to profound reduction in renal phosphate reabsorption. Impaired growth, severe rickets and complex skeletal deformities are direct consequences of hypophosphatemia representing major symptoms of XLH during childhood. In adults, secondary complications including early development of osteoarthritis substantially impair quality of life and cause significant clinical burden. With the global approval of the monoclonal FGF23 antibody burosumab, a targeted treatment with promising results in phase III studies is available for children with XLH. Nevertheless, complete phenotypic rescue is rarely achieved and remaining multisystemic s

SUBMITTER: Raimann A 

PROVIDER: S-EPMC7098922 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature