Division of Pediatric Pulmonology, Allergology and Endocrinology, Department of Pediatrics and Adolescent Medicine, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria.
Division of General and Pediatric Radiology, Department of Biomedical Imaging and Image-guided Therapy, Medical University of Vienna, Vienna, Austria.
Front Endocrinol (Lausanne). 2020 Jun 9;11:355. doi: 10.3389/fendo.2020.00355. eCollection 2020.
To assess the diagnostic potential of bidirectional axial transmission (BDAT) ultrasound, and high-resolution peripheral quantitative computed tomography (HR-pQCT) in X-linked hypophosphatemia (XLH, OMIM #307800), a rare genetic disorder of phosphate metabolism caused by mutations in the gene. BDAT bone ultrasound was performed at the non-dominant distal radius (33% relative to distal head) and the central left tibia (50%) in eight XLH patients aged between 4.2 and 20.8 years and compared to twenty-nine healthy controls aged between 5.8 and 22.4 years. In eighteen controls, only radius measurements were performed. Four patients and four controls opted to participate in HR-pQCT scanning of the ultradistal radius and tibia. Bone ultrasound was feasible in patients and controls as young as 4 years of age. The velocity of the first arriving signal (ν) in BDAT ultrasound was significantly lower in XLH patients compared to healthy controls: In the radius, mean ν of XLH patients and controls was 3599 ± 106 and 3866 ± 142 m/s, respectively (-6.9%; < 0.001). In the tibia, it was 3578 ± 129 and 3762 ± 124 m/s, respectively (-4.9%; = 0.006). HR-pQCT showed a higher trabecular thickness in the tibia of XLH patients (+16.7%; = 0.021). Quantitative bone ultrasound revealed significant differences in cortical bone quality of young XLH patients as compared to controls. Regular monitoring of XLH patients by a radiation-free technology such as BDAT might provide valuable information on bone quality and contribute to the optimization of treatment. Further studies are needed to establish this affordable and time efficient method in the XLH patients.
为了评估双向轴向传输（BDAT）超声和高分辨率外周定量计算机断层扫描（HR-pQCT）在 X 连锁低磷血症（XLH，OMIM#307800）中的诊断潜力，XLH 是一种由基因 突变引起的罕见遗传性磷酸盐代谢紊乱。对 8 名年龄在 4.2 至 20.8 岁的 XLH 患者和 29 名年龄在 5.8 至 22.4 岁的健康对照者的非优势侧远端桡骨（距远端头部 33%）和左侧胫骨中部（50%）进行了 BDAT 骨超声检查。在 18 名对照者中，仅进行了桡骨测量。4 名患者和 4 名对照者选择进行超远端桡骨和胫骨的 HR-pQCT 扫描。骨超声在 4 岁及以上的患者和对照者中是可行的。BDAT 超声中第一个到达信号（ν）的速度在 XLH 患者中明显低于健康对照者：在桡骨中，XLH 患者和对照组的平均 ν 分别为 3599 ± 106 和 3866 ± 142 m/s（-6.9%；<0.001）。在胫骨中，分别为 3578 ± 129 和 3762 ± 124 m/s（-4.9%；=0.006）。HR-pQCT 显示 XLH 患者胫骨的小梁厚度较高（+16.7%；=0.021）。定量骨超声显示，与对照组相比，年轻 XLH 患者的皮质骨质量存在显著差异。使用无辐射技术（如 BDAT）对 XLH 患者进行定期监测可能会提供有关骨质量的有价值信息，并有助于优化治疗。需要进一步的研究来在 XLH 患者中建立这种经济实惠且高效的方法。
