On X-linked hypophosphatemia at the European society of pediatric endocrinology meeting, Vienna, Austria; September 19–21, 2019
Hussain Alsaffar1, Senthil Senniappan2, Agnès Linglart3
1 Pediatric Endocrinology and Diabetes Unit, Sultan Qaboos University Hospital, Muscat, Oman; Department of Pediatric, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, England, UK
2 Department of Pediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, England, UK
3 Department of Endocrinology and Diabetes for Children, Bicetre Paris Sud Hospital, Paris, France
Sultan Qaboos University Hospital, P. O. Box 38, Al-Khod, Muscat
Source of Support: None, Conflict of Interest: None
X-linked hypophosphatemia (XLH) is the most common form of inherited hypophosphatemic rickets. Phosphate wasting results in weak, soft and deformed bones, impaired growth, and affected mobility. It is mainly caused by a loss of function mutation in PHEX gene that leads to elevated fibroblast growth factor-23 which mediates the phosphate wasting. During the 58th annual meeting of the European Society of Pediatric Endocrinology (ESPE) held in Vienna between September 19, 2019 and 21, 2019, nearly 100 free communications and a dedicated symposium focused on XLH. The authors attended the conference and wished to share its highlights pertaining to XLH and burosumab therapy to extend the benefit to other professionals who did not attend.