Department of Endocrinology, Key Laboratory of Endocrinology, NHC, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
J Bone Miner Res. 2022 Jan;37(1):78-86. doi: 10.1002/jbmr.4436. Epub 2021 Sep 28.
Camurati-Engelmann disease (CED) is a rare autosomal-dominant skeletal dysplasia caused by mutations in the transforming growth factor-β1 (TGFB1) gene. In this study, a retrospective review of patients with CED evaluated at Peking Union Medical College Hospital in Beijing, China, between November 30, 2000 and November 30, 2020 was conducted. Data including demographic data, manifestations, and examination results were characterized. Furthermore, bone geometry, density, and microarchitecture were assessed and bone strength was estimated by HR-pQCT. Results showed the median age at onset was 2.5 years. Common manifestations included pain in the lower limbs (94%, 17/18), abnormal gait (89%, 16/18), genu valgum (89%, 16/18), reduced subcutaneous fat (78%, 14/18), delayed puberty (73%, 8/11), muscle weakness (67%, 12/18), hearing loss (39%, 7/18), hepatosplenomegaly (39%, 7/18), exophthalmos or impaired vision or visual field defect (33%, 6/18), and anemia (33%, 7/18). Twenty-five percent (4/16) of patients had short stature. Serum level of alkaline phosphatase was elevated in 41% (7/17) of patients whereas beta-C-terminal telopeptide was elevated in 91% of patients (10/11). Among 12 patients, the Z-scores of two patients were greater than 2.5 at the femur neck and the Z-scores of five patients were lower than -2.5 at the femur neck and/or lumbar spine. HR-pQCT results showed lower volumetric BMD (vBMD), altered bone microstructure and lower estimated bone strength at the distal radius and tibia in patients with CED compared with controls. In addition, total volume bone mineral density and cortical volumetric bone mineral density at the radius were negatively correlated with age in patients with CED, but positively correlated with age in controls. In conclusion, the largest case series of CED with characterized clinical features in a Chinese population was reported here. In addition, HR-pQCT was used to investigate bone microstructure at the distal radius and tibia in nine patients with CED, and the alteration of bone density, microstructure, and strength was shown for the first time. © 2021 American Society for Bone and Mineral Research (ASBMR).
卡姆鲁蒂-恩格尔曼病（CED）是一种罕见的常染色体显性遗传性骨骼发育不良，由转化生长因子-β1（TGFB1）基因突变引起。本研究回顾性分析了 2000 年 11 月 30 日至 2020 年 11 月 30 日期间在北京协和医学院医院就诊的 CED 患者。分析了患者的人口统计学数据、临床表现和检查结果。此外，采用高分辨率外周定量计算机断层扫描（HR-pQCT）评估了骨几何结构、密度和微结构，并估计了骨强度。结果显示，中位发病年龄为 2.5 岁。常见的临床表现包括下肢疼痛（94%，17/18）、异常步态（89%，16/18）、膝内翻（89%，16/18）、皮下脂肪减少（78%，14/18）、青春期延迟（73%，8/11）、肌肉无力（67%，12/18）、听力损失（39%，7/18）、肝脾肿大（39%，7/18）、突眼或视力受损或视野缺损（33%，6/18）和贫血（33%，7/18）。25%（4/16）的患者身材矮小。17 例患者中有 41%（7/17）碱性磷酸酶水平升高，11 例患者中有 91%（10/11）β-C 端肽升高。12 例患者中，2 例患者股骨颈的 Z 值大于 2.5，5 例患者股骨颈和/或腰椎的 Z 值小于-2.5。与对照组相比，CED 患者桡骨远端和胫骨的 HR-pQCT 结果显示体积骨密度（vBMD）较低、骨微观结构改变、骨强度估计值较低。此外，CED 患者桡骨的总容积骨密度和皮质容积骨密度与年龄呈负相关，而对照组则呈正相关。总之，本研究报告了中国人群中最大的 CED 病例系列，具有特征性的临床特征。此外，还使用 HR-pQCT 首次研究了 9 例 CED 患者桡骨远端和胫骨的骨微观结构，显示了骨密度、微观结构和强度的改变。© 2021 美国骨骼与矿物质研究协会（ASBMR）。
