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

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 58^th 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

• References

• 1 Ruppe MD. X-Linked Hypophosphatemia. GeneReviews; 2017. Available from: http://www.ncbi.nlm.nih.gov/books/NBK83985/#rickets-xlh. [Last accessed 2020 Jan 13].
• 2 X-Linked Hypophosphatemia. Genetic and Rare Diseases Information Centre; 2018. Available from: https://rarediseases.info.nih.gov/diseases/12943/x-linked-hypophosphatemia#ref_10802. [Last accessed 2020 Jan 13].
• 3 Hereditary Hypophosphatemic Rickets. Genetics Home Reference; 2010. Available from: http://ghr.nlm.nih.gov/condition/hereditary-hypophosphatemic-rickets. [Last accessed 2020 Jan 13].
• 4 European Society for Paediatric Endocrinology. 58th Annual Meeting. Vienna; European Society for Paediatric Endocrinology; 2019. Horm Res Paediatr 2019;91 Suppl 1:1-682. DOI: 10.1159/000501868
• 5 Alsaffar H, Beshyah SA. Gulf X-Linked Hypophosphatemia Preceptorship. Paris, France: Bicêtre Paris Sud Hospital; 2019. Ibnosina J Med Biomed Sci 2019;11:196-203. DOI: 10.4103/ijmbs.ijmbs_69_19.