Skip to main content


Weitere Artikel dieser Ausgabe durch Wischen aufrufen

28.01.2020 | main topic | Ausgabe 5-6/2020 Open Access

Wiener Medizinische Wochenschrift 5-6/2020

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

Wiener Medizinische Wochenschrift > Ausgabe 5-6/2020
Adalbert Raimann, Gabriel T. Mindler, Roland Kocijan, Katrin Bekes, Jochen Zwerina, Gabriele Haeusler, Rudolf Ganger
Wichtige Hinweise

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.


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 symptoms demand multidisciplinary specialist care. Coordination of patient management within the major medical disciplines is a mainstay to optimize treatment and reduce disease burden. This review aims to depict different perspectives in XLH patient care in the setting of a multidisciplinary centre of expertise for rare bone diseases.

Unsere Produktempfehlungen

Abo für kostenpflichtige Inhalte

Über diesen Artikel

Weitere Artikel der Ausgabe 5-6/2020

Wiener Medizinische Wochenschrift 5-6/2020 Zur Ausgabe