Lambert Anne-Sophie, Rothenbuhler Anya, Charles Perrine, Brailly-Tabard Sylvie, Trabado Séverine, Célestin Elisabeth, Durand Emmanuel, Fontaine Isabelle, Miladi Lotfi, Wicart Philippe, Bahi-Buisson Nadia, Linglart Agnès
APHP, Department of pediatric endocrinology and diabetology for children, Bicêtre Paris-Sud, Le Kremlin Bicêtre, France.
APHP, Reference center for rare disorders of calcium and phosphate metabolism, filière OSCAR and Plateforme d'Expertise Maladies Rares Paris-Sud, Bicêtre Paris-Sud, Le Kremlin Bicêtre, France.
PLoS One. 2017 Oct 26;12(10):e0186941. doi: 10.1371/journal.pone.0186941. eCollection 2017.
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 restore bone density.
经典型雷特综合征（RS）是一种主要由MECP2基因突变引起的致残性疾病。患有RS的女孩在年轻时有发生骨质脆弱和骨折的风险，这会导致疼痛，并可能严重损害生活质量。
回顾性评估静脉注射双膦酸盐对患有骨质脆弱的RS女孩骨折、骨矿物质密度（BMD）和骨标志物的安全性和有效性。
RS女孩接受静脉注射帕米膦酸盐（n = 19）或静脉注射唑来膦酸盐（n = 1）治疗2年。
在研究的20名患者中（年龄：12.5岁[6；39]），14名不能行走。骨折发生率从20名患者中的37次骨折降至治疗期间或治疗后（随访：3.1年[1.5；5]）的1次骨折。脊柱BMD Z值从-3.2[-5.6；-0.1]提高到-2.2[-3.8；0.0]，p = 0.0006。大多数家长报告慢性疼痛减轻，2名患者开始行走。尿钙排泄量从0.7[0.18；1.5]降至0.2[0.03；0.67]mmol/mmol肌酐（p = 0.0001）。帕米膦酸盐耐受性良好。
应筛查RS女孩的骨矿化受损情况，并采取预防措施。对于发生骨折的女孩，静脉注射双膦酸盐是一种有益的辅助治疗方法，可降低骨折风险并恢复骨密度。
