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Wien Med Wochenschr. 2020 Apr;170(5-6):116-123. doi: 10.1007/s10354-019-00732-2. Epub 2020 Jan 28.

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

Author information

1
Comprehensive Center for Pediatrics, Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Medical University of Vienna, Vienna, Austria. adalbert.raimann@meduniwien.ac.at.
2
Vienna Bone and Growth Centre, Vienna, Austria. adalbert.raimann@meduniwien.ac.at.
3
Department of Pediatric Orthopaedics, Orthopaedic Hospital Speising, Vienna, Austria.
4
Vienna Bone and Growth Centre, Vienna, Austria.
5
Hanusch Hospital of the WGKK and AUVA Trauma Center, 1st Medical Department at Hanusch Hospital, Ludwig Boltzmann Institute of Osteology, Vienna, Austria.
6
Department of Pediatric Dentistry, School of Dentistry, Medical University of Vienna, Vienna, Austria.
7
Comprehensive Center for Pediatrics, Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Medical University of Vienna, Vienna, Austria.

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 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.

KEYWORDS:

Burosumab; FGF23; Phosphate; Rare disease; XLH

PMID:
31993875
DOI:
10.1007/s10354-019-00732-2

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