Roende Gitte, Petersen Janne, Ravn Kirstine, Fuglsang Kathrine, Andersen Henrik, Nielsen Jytte B, Brøndum-Nielsen Karen, Jensen Jens-Erik B
Center for Rett Syndrome, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.
Clinical Research Centre, Copenhagen University Hospital, Hvidovre Hospital, Hvidovre, Denmark.
Pediatr Res. 2014 Apr;75(4):551-8. doi: 10.1038/pr.2013.252. Epub 2013 Dec 27.
Patients with Rett syndrome (RTT) are at risk of having low bone mass and low-energy fractures.
We characterized bone metabolism by both bone formation and resorption markers in blood in a RTT population of 61 girls and women and 122 well-matched healthy controls. Levels of N-terminal propeptides of collagen type 1 (P1NP), C-terminal telopeptide cross links (CTX), osteocalcin (OC), and bone-specific alkaline phosphatase (B-ALP) were compared between RTT patients and controls in regression models adjusted for BMI, vitamin D status, volumetric bone mineral apparent density of the lumbar spine (vBMAD spine), and femoral neck (vBMAD neck). We examined biochemical bone marker levels overall and stratified to persons younger than age 25 y or equal to or older than age 25 y.
The RTT patients had reduced levels of all biochemical bone markers (P < 0.05), which remained significant in persons younger than 25 y (P ≤ 0.001) regarding P1NP, CTX, and OC. Bone marker levels were not significantly associated to methyl-CpG-binding protein 2 (MECP2) mutation group, walking ability, or previous low-energy fractures.
Our findings of a low bone turnover state in girls with RTT suggest critical attention to medical treatment of low bone mass in young RTT patients.
雷特综合征（RTT）患者存在低骨量和低能量骨折的风险。
我们通过骨形成和骨吸收标志物对61名患有RTT的女孩和女性以及122名匹配良好的健康对照者的血液中的骨代谢进行了特征分析。在针对体重指数（BMI）、维生素D状态、腰椎体积骨矿物质表观密度（vBMAD脊柱）和股骨颈（vBMAD股骨颈）进行调整的回归模型中，比较了RTT患者和对照者中1型胶原N端前肽（P1NP）、C端交联端肽（CTX）、骨钙素（OC）和骨特异性碱性磷酸酶（B-ALP）的水平。我们对总体以及按年龄小于25岁或年龄大于或等于25岁分层的人群的生化骨标志物水平进行了检查。
RTT患者的所有生化骨标志物水平均降低（P < 0.05），在年龄小于25岁的人群中，P1NP、CTX和OC的水平仍具有显著差异（P ≤ 0.001）。骨标志物水平与甲基化CpG结合蛋白2（MECP2）突变组、行走能力或既往低能量骨折无显著相关性。
我们关于RTT女孩处于低骨转换状态的研究结果表明，应高度关注年轻RTT患者低骨量的医学治疗。
