Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.
Orphanet J Rare Dis. 2013 May 11;8:71. doi: 10.1186/1750-1172-8-71.
Patients with mucopolysaccharidoses (MPS) are associated with poor bone growth and mineralization, however, information regarding the assessment of bone mineral density (BMD) in relation to age and treatment in this disorder is limited.
Dual energy x-ray absorptiometry (DXA) was performed in 30 patients with MPS (21 males and 9 females; 2 with MPS I, 12 with MPS II, 2 with MPS IIIB, 9 with MPS IVA, and 5 with MPS VI; median age, 10.8 years; age range, 5.0 years to 23.7 years; 26 patients were under 19 and 4 were above 19 years of age) to assess BMD of the lumbar spine (L1-L4), using the Hologic QDR 4500 system (Bedford, MA, USA).
For 26 patients under 19 years of age, standard deviation scores (z scores) for height, weight, body mass index (BMI), and BMD were -4.53 ± 2.66, -1.15 ± 1.55, 0.74 ± 1.23, and -3.03 ± 1.62, respectively, and they were all negatively correlated with age (p < 0.05). However, after correction for height-for-age z score (HAZ), HAZ adjusted BMD z score was -0.7 ± 1.24. Eight patients (31%) had osteopenia (HAZ adjusted BMD z score < -1 and ≥ -2), and 4 patients (15%) had osteoporosis (HAZ adjusted BMD z score < -2). Of 8 patients with MPS I, II or VI who underwent follow-up DXA after receiving enzyme replacement therapy for 1.0 to 7.4 years, all showed increase in absolute BMD values.
These findings and the follow-up data can be used to develop quality of care strategies for patients with MPS.
黏多糖贮积症（MPS）患者的骨骼生长和矿化不良，然而，该疾病中关于骨密度（BMD）与年龄和治疗关系的评估信息有限。
对 30 名 MPS 患者（21 名男性，9 名女性；2 名 MPS I 型，12 名 MPS II 型，2 名 MPS IIIB 型，9 名 MPS IVA 型，5 名 MPS VI 型；中位年龄 10.8 岁；年龄范围 5.0 岁至 23.7 岁；26 名患者年龄在 19 岁以下，4 名患者年龄在 19 岁以上）进行双能 X 射线吸收法（DXA）检查，使用 Hologic QDR 4500 系统（美国马萨诸塞州贝德福德）评估腰椎（L1-L4）的 BMD。
对于 26 名年龄在 19 岁以下的患者，身高、体重、体重指数（BMI）和 BMD 的标准偏差评分（z 评分）分别为-4.53±2.66、-1.15±1.55、0.74±1.23 和-3.03±1.62，均与年龄呈负相关（p<0.05）。然而，经过身高年龄 z 评分（HAZ）校正后，HAZ 调整的 BMD z 评分则为-0.7±1.24。8 名患者（31%）存在骨质疏松症（HAZ 调整的 BMD z 评分<-1 且≥-2），4 名患者（15%）存在骨质疏松症（HAZ 调整的 BMD z 评分<-2）。8 名接受酶替代治疗 1.0 至 7.4 年的 MPS I、II 或 VI 型患者进行了随访 DXA，所有患者的绝对 BMD 值均增加。
这些发现和随访数据可用于制定 MPS 患者的护理质量策略。
