Motil Kathleen J, Ellis Kenneth J, Barrish Judy O, Caeg Erwin, Glaze Daniel G
USDA/ARS Children's Nutrition Research Center, Departments of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA.
Pediatr Res. 2008 Oct;64(4):435-9. doi: 10.1203/PDR.0b013e318180ebcd.
Although bone mineral deficits have been identified in Rett syndrome (RTT), the prevalence of low bone mineral density (BMD) and its association with skeletal fractures and scoliosis has not been characterized fully in girls and women with RTT. Accordingly, we measured total body bone mineral content (BMC) and BMD using dual energy x-ray absorptiometry in a cross-sectional group of 50 females, aged 2-38 y, with RTT. Methyl-CpG-binding 2 (MECP2) mutations, skeletal fractures, and scoliosis were documented. The prevalence of BMC and BMD z scores < or-2 SD was 59 and 45%, respectively. Although absolute BMC and BMD increased significantly with increasing age, BMC, and BMD z scores were significantly lower in older than in younger females. The prevalence of fractures and scoliosis was 28 and 64%, respectively. Low BMD z scores were positively associated with fractures and scoliosis. Deficits in BMD were identified across a broad range of MECP2 mutations. This study identified associations among low BMD, fractures, and scoliosis, and underscored the need for better understanding of the molecular mechanisms of MECP2 in the regulation of bone mineral metabolism.
尽管在雷特综合征（RTT）中已发现骨矿物质缺乏，但低骨矿物质密度（BMD）的患病率及其与骨骼骨折和脊柱侧弯的关联在患有RTT的女孩和女性中尚未得到充分描述。因此，我们使用双能X线吸收法对50名年龄在2至38岁的患有RTT的女性进行横断面研究，测量了她们的全身骨矿物质含量（BMC）和BMD。记录了甲基化CpG结合蛋白2（MECP2）突变、骨骼骨折和脊柱侧弯情况。BMC和BMD z评分＜或-2 SD的患病率分别为59%和45%。尽管绝对BMC和BMD随年龄增长显著增加，但老年女性的BMC和BMD z评分显著低于年轻女性。骨折和脊柱侧弯的患病率分别为28%和64%。低BMD z评分与骨折和脊柱侧弯呈正相关。在广泛的MECP2突变中均发现了BMD不足。本研究确定了低BMD、骨折和脊柱侧弯之间的关联，并强调需要更好地了解MECP2在骨矿物质代谢调节中的分子机制。
