Kubaski Francyne, Kecskemethy Heidi H, Harcke H Theodore, Tomatsu Shunji
Department of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA; Department of Biological Sciences, University of Delaware, 118 Wolf Hall, Newark, DE 19716, USA.
Department of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA; Department of Medical Imaging, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA.
Mol Genet Metab Rep. 2016 Aug 8;8:80-84. doi: 10.1016/j.ymgmr.2016.08.001. eCollection 2016 Sep.
To date, the only published reports of bone mineral density (BMD) in MPS IV involve patients with MPS IVA; no reports exist describing BMD for MPS IVB. In this prospective study of BMD in three patients with MPS IVB, BMD was acquired by dual-energy X-ray absorptiometry (DXA) at whole body (WB), lumbar spine (LS), and lateral distal femur (LDF). Functional abilities, ambulatory status, medical history, and height z-score were evaluated. Three patients with MPS IVB (two females), aged 17.7, 31.4 and 31.7 years, were evaluated. Every patient was ambulatory and one sustained two fractures caused by trauma. Whole body and hip DXA scans were technically invalid in every patient due to the presence of prosthetic hip hardware. Lumbar spine was valid in only 1 patient due skeletal abnormalities, and was normal (Z-score of - 0.8). The LDF was valid in every patient and was low at all three regions of interest: average LDF z-scores were - 3.1 (range, - 2.9 to - 3.6), - 2.3 (range, - 2.0 to - 2.5), and - 2.1 (range, - 2.0 to - 2.3) for region 1-region 3, respectively. Patients with MPS IVB have low BMD of the lower extremities even with full-time ambulation. Routine body sites to measure by DXA were problematic; hip and WB were invalid due to artifact, and LS had limited utility. The LDF was the only body site consistently available on all patients. Patients did not experience low-energy fractures despite low BMD.
迄今为止，关于黏多糖贮积症IV型（MPS IV）骨矿物质密度（BMD）的已发表报告仅涉及MPS IVA患者；尚无关于MPS IVB患者BMD的报告。在这项对3例MPS IVB患者进行的BMD前瞻性研究中，通过双能X线吸收法（DXA）测量全身（WB）、腰椎（LS）和股骨远端外侧（LDF）的BMD。评估了功能能力、步行状态、病史和身高Z评分。对3例MPS IVB患者（2例女性）进行了评估，年龄分别为17.7岁、31.4岁和31.7岁。每位患者均能行走，其中1例因外伤导致两处骨折。由于存在人工髋关节假体，每位患者的全身和髋部DXA扫描在技术上均无效。由于骨骼异常，腰椎扫描仅在1例患者中有效，且结果正常（Z评分为 -0.8）。LDF在每位患者中均有效，且在所有三个感兴趣区域均较低：区域1 - 区域3的平均LDF Z评分分别为 -3.1（范围为 -2.9至 -3.6）、 -2.3（范围为 -2.0至 -2.5）和 -2.1（范围为 -2.0至 -2.3）。即使能全职行走，MPS IVB患者的下肢BMD仍较低。通过DXA测量的常规身体部位存在问题；髋部和全身扫描因伪影无效，腰椎的效用有限。LDF是所有患者唯一始终可用的身体部位。尽管BMD较低，但患者未发生低能量骨折。
