Erik A Imel1,2. 1. Department of Medicine, Indiana University School of Medicine, 1120 West Michigan Street, CL 365, Indianapolis, IN, 46202-5111, USA. eimel@iu.edu. 2. Department of Pediatrics, Indiana University School of Medicine, 1120 West Michigan Street, CL 365, Indianapolis, IN, 46202-5111, USA. eimel@iu.edu.
Abstract
PURPOSE OF REVIEW: X-Linked hypophosphatemia (XLH) is the most common genetic cause of rickets. This review describes advances in the management of XLH using burosumab which was FDA approved for treating children with XLH in 2018. RECENT FINDINGS: Elevated FGF23 in XLH leads to systemic hypophosphatemia and several musculoskeletal manifestations, including rachitic bone deformities, impaired growth, dental abscesses, insufficiency fractures, osteoarthritis, and enthesopathy, with lifelong consequences for physical function and quality of life. Burosumab treatment has demonstrated clinical improvement of rickets and growth in children, including during a randomized controlled trial compared with conventional therapy. Burosumab also improved pseudofracture healing in adults. Burosumab led to greater improvement in rickets and growth than conventional therapy. However, many questions remain regarding the impact of burosumab on several outcomes, including final height, nephrocalcinosis, dental disease, enthesopathy, and surgical interventions.
PURPOSE OF REVIEW: X-Linked hypophosphatemia (XLH) is the most common genetic cause of rickets. This review describes advances in the management of XLH using burosumab which was FDA approved for treating children with XLH in 2018. RECENT FINDINGS: Elevated FGF23 in XLH leads to systemic hypophosphatemia and several musculoskeletal manifestations, including rachitic bone deformities, impaired growth, dental abscesses, insufficiency fractures, osteoarthritis, and enthesopathy, with lifelong consequences for physical function and quality of life. Burosumab treatment has demonstrated clinical improvement of rickets and growth in children, including during a randomized controlled trial compared with conventional therapy. Burosumab also improved pseudofracture healing in adults. Burosumab led to greater improvement in rickets and growth than conventional therapy. However, many questions remain regarding the impact of burosumab on several outcomes, including final height, nephrocalcinosis, dental disease, enthesopathy, and surgical interventions.
Authors: Michael P Whyte; Kenji P Fujita; Scott Moseley; David D Thompson; William H McAlister Journal: J Bone Miner Res Date: 2018-02-14 Impact factor: 6.741
Authors: Sean DeLacey; Ziyue Liu; Andrea Broyles; Sarah A El-Azab; Cristian F Guandique; Benjamin C James; Erik A Imel Journal: Bone Date: 2019-07-02 Impact factor: 4.398
Authors: Erik A Imel; Xiaoping Zhang; Mary D Ruppe; Thomas J Weber; Mark A Klausner; Takahiro Ito; Maria Vergeire; Jeffrey S Humphrey; Francis H Glorieux; Anthony A Portale; Karl Insogna; Munro Peacock; Thomas O Carpenter Journal: J Clin Endocrinol Metab Date: 2015-04-28 Impact factor: 5.958
Authors: Alison Skrinar; Melita Dvorak-Ewell; Ayla Evins; Carolyn Macica; Agnès Linglart; Erik A Imel; Christina Theodore-Oklota; Javier San Martin Journal: J Endocr Soc Date: 2019-05-07