Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations

@article{Chesher2018OutcomeOA,
  title={Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations},
  author={Douglas Chesher and Michael J Oddy and Ulpee R Darbar and Parag P. Sayal and Adrian T. H. Casey and Aidan Ryan and Annalisa Sechi and Charlotte Simister and Aoife M. Waters and Yehani N Wedatilake and Robin H L Lachmann and Elaine Murphy},
  journal={Journal of Inherited Metabolic Disease},
  year={2018},
  pages={1-12}
}
X-linked hypophosphatemia (XLH) is the most common monogenic disorder causing hypophosphatemia. This case-note review documents the clinical features and the complications of treatment in 59 adults (19 male, 40 female) with XLH. XLH is associated with a large number of private mutations; 37 different mutations in the PHEX gene were identified in this cohort, 14 of which have not been previously reported. Orthopaedic involvement requiring surgical intervention (osteotomy) was frequent. Joint… CONTINUE READING