Lower incidence of fracture after IV bisphosphonates in girls with Rett syndrome and severe bone fragility

PloS One
Anne-Sophie LambertAgnès Linglart

Abstract

Classic Rett Syndrome (RS) is a disabling condition mainly caused by MECP2 mutations. Girls with RS are at risk of developing bone fragility and fractures at a young age which results in pain and may seriously impair quality of life. To retrospectively assess the safety and efficacy of IV bisphosphonates on fracture, bone mineral density (BMD) and bone markers in RS girls with bone fragility. RS girls received either IV pamidronate (n = 19) or IV zoledronate (n = 1) for 2 years. Of 20 patients studied (age: 12.5 years [6; 39]), 14 were non-ambulatory. The incidence of fracture decreased from 37 fractures in 20 patients, to 1 fracture during or after treatment (follow-up: 3.1 years [1.5; 5]). The spine BMD Z-score improved from -3.2 [-5.6; -0.1] to -2.2 [-3.8; 0.0], p = 0.0006. Most parents reported decreases in chronic pain and 2 patients started to walk. Urinary calcium excretion decreased from 0.7 [0.18; 1.5] to 0.2 [0.03; 0.67] mM/mM of creatinine (p = 0.0001). Pamidronate was well tolerated. RS girls should be screened for impaired bone mineralization and preventive measures should be taken. In girls experiencing fractures, IV bisphosphonates constitute a beneficial adjuvant treatment to diminish the risk of fracture and re...Continue Reading

References

May 13, 1982·The New England Journal of Medicine·A F StewartA E Broadus
Oct 1, 1998·The New England Journal of Medicine·F H GlorieuxR Travers
Aug 15, 2006·Developmental Medicine and Child Neurology·Horacio PlotkinGary Lerner
Nov 22, 2007·Journal of Pediatric Gastroenterology and Nutrition·Wendy H OddyHelen Leonard
Mar 4, 2008·Pediatrics·Jennepher DownsHelen Leonard
Nov 27, 2008·The Journal of Clinical Endocrinology and Metabolism·Laura K Bachrach, Leanne M Ward
Mar 17, 2010·Neurology·D G GlazeH-S Lee
Jul 28, 2010·Pediatric Research·Jay R ShapiroSakkubai Naidu
Dec 24, 2010·Pediatric Research·Gitte RoendeJytte Bieber Nielsen
May 19, 2011·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Gitte RoendeJens-Erik Beck Jensen
Oct 5, 2012·Neurology·Daniel Charles TarquinioAlan K Percy
Apr 30, 2013·Handbook of Clinical Neurology·Nadia Bahi-Buisson
Jun 12, 2013·Developmental Medicine and Child Neurology·Ulrika Uddenfeldt WortLena Westbom
Jul 6, 2013·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·M LotanJ Merrick
Dec 26, 2013·PM & R : the Journal of Injury, Function, and Rehabilitation·Alison M BoyceScott M Paul
Oct 19, 2010·Journal of Diabetes Investigation·Akinobu NakamuraYasuo Terauchi
Jun 20, 2014·Orphanet Journal of Rare Diseases·Alison AndersonHelen Leonard
Oct 8, 2014·Current Osteoporosis Reports·Wesley H BronsonKenneth A Egol
Jan 21, 2016·The New England Journal of Medicine·Dennis M Black, Clifford J Rosen

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Citations

Sep 23, 2020·Current Osteoporosis Reports·Mercedes Rodriguez CelinGerald F Harris
Dec 17, 2018·Calcified Tissue International·Arnaud WiedemannFrançois Feillet
Jul 3, 2021·Life·Alessandra PecorelliGiuseppe Valacchi

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urine collection
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GraphPad PRISM

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