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CC BY-NC-ND 4.0 · Ibnosina Journal of Medicine and Biomedical Sciences 2020; 12(01): 68-73
DOI: 10.4103/ijmbs.ijmbs_3_20
Conference Highlights

On X-linked hypophosphatemia at the European society of pediatric endocrinology meeting, Vienna, Austria; september 19–21, 2019

Hussain Alsaffar
1   Pediatric Endocrinology and Diabetes Unit, Sultan Qaboos University Hospital, Muscat, Oman
2   Department of Pediatric, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, England, UK
,
Senthil Senniappan
3   Department of Pediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, England
,
Agnès Linglart
4   Department of Endocrinology and Diabetes for Children, Bicetre Paris Sud Hospital, Paris, France
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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.

Key-words:

Bone deformities - bone disorders - fracture - congenital and genetic diseases - rickets - short stature - x-linked hypophosphatemia

Financial support and sponsorship

Nil.




Publication History

Received: 16 January 2020

Accepted: 26 March 2020

Article published online:
07 July 2022

© 2020. The Libyan Authority of Scientific Research and Technologyand the Libyan Biotechnology Research Center. All rights reserved. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License,permitting copying and reproductionso long as the original work is given appropriate credit. Contents may not be used for commercial purposes, oradapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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