Department of Radiology & Imaging Sciences, Indiana University School of Medicine, 1701 N. Senate Blvd, Radiology Dept, MH1238A, Indianapolis, IN, 46202, USA.
Indiana Center for Musculoskeletal Health, Indiana University, Indianapolis, IN, USA.
Skeletal Radiol. 2021 May;50(5):903-913. doi: 10.1007/s00256-020-03625-3. Epub 2020 Oct 3.
To characterize relationships between quantitative computed tomography bone mineral density measurements and other qualitative and quantitative imaging measures, as well as clinical metrics, in patients with autosomal dominant osteopetrosis type 2 (ADO2).
Clinical and radiologic parameters of 9 adults and 3 children with autosomal dominant osteopetrosis type 2 were assessed including lumbar spine quantitative computed tomography (QCT), radiographic skeletal survey (skull base thickening; Erlenmeyer flask deformity; endobone pattern; and spine density pattern (endplate sclerosis, "anvil" appearance, or diffuse sclerosis)), dual-energy x-ray absorptiometry (DXA), tibial peripheral quantitative computed tomography (pQCT) volumetric bone mineral density (vBMD), bone turnover markers, and bone marrow failure or visual impairment.
The skeletal parameter most divergent from normal was lumbar spine QCT Z-score (+ 3.6 to + 38.7). Lumbar QCT Z-score correlated positively with pQCT tibial diaphysis vBMD (Pearson correlation r = 0.73, p = 0.02) and pQCT tibial metaphysis vBMD (r = 0.87, p < 0.01). A trend towards positive lumbar QCT Z-score correlation with serum P1NP/CTX ratio (r = 0.54, p = 0.10) and lumbar DXA Z-score (r = 0.55, p = 0.10) were observed. Bone marrow failure and vision impairment occurred in those with most severe quantitative and qualitative measures, while those with less severe radiographic features had the lowest QCT Z-scores.
Lumbar spine QCT provided the most extreme skeletal assessment in ADO2, which correlated positively with other radiologic and clinical markers of disease severity. Given the quantification of trabecular bone and greater variation from normal with wider range of values, lumbar QCT Z-scores may be useful to determine or detect impact of future treatments.
描述 2 型常染色体显性遗传性骨硬化症（ADO2）患者定量 CT 骨密度测量值与其他定性和定量成像指标以及临床指标之间的关系。
评估了 9 名成人和 3 名儿童 ADO2 患者的临床和放射学参数，包括腰椎定量 CT（QCT）、放射性骨骼检查（颅底增厚；瓶颈畸形；内骨模式；和脊柱密度模式（终板硬化、“铁砧”外观或弥漫性硬化））、双能 X 线吸收法（DXA）、胫骨外周定量 CT（pQCT）容积骨密度（vBMD）、骨转换标志物以及骨髓衰竭或视力损害。
最偏离正常的骨骼参数是腰椎 QCT Z 评分（+3.6 至+38.7）。腰椎 QCT Z 评分与 pQCT 胫骨骨干 vBMD 呈正相关（Pearson 相关 r=0.73，p=0.02）和 pQCT 胫骨干骺端 vBMD（r=0.87，p<0.01）。观察到腰椎 QCT Z 评分与血清 P1NP/CTX 比值（r=0.54，p=0.10）和腰椎 DXA Z 评分（r=0.55，p=0.10）呈正相关趋势。骨髓衰竭和视力损害发生在定量和定性测量最严重的患者中，而那些影像学特征较轻的患者的 QCT Z 评分最低。
腰椎 QCT 对 ADO2 患者的骨骼评估最具极端性，与疾病严重程度的其他放射学和临床标志物呈正相关。由于定量了小梁骨，并且由于值的范围较宽，变化较大，因此腰椎 QCT Z 评分可能有助于确定或检测未来治疗的影响。
