Rapid skeletal turnover in a radiographic mimic of osteopetrosis.
Rapid skeletal turnover in a radiographic mimic of osteopetrosis.
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DOI：
10.1002/jbmr.2289
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发表时间：
2014-12
影响因子：
6.2
通讯作者：
Shaw, Nicholas J.
中科院分区：
文献类型：
--
作者：
Whyte, Michael P.;Madson, Katherine L.;Mumm, Steven;McAlister, William H.;Novack, Deborah V.;Blair, Jo C.;Helliwell, Timothy R.;Stolina, Marina;Abernethy, Laurence J.;Shaw, Nicholas J.
在高骨量疾病中，石骨症反映破骨细胞衰竭，其阻止骨骼吸收和转换，导致骨生长和建模减少以及特征性组织病理学和放射学结果。我们报告一个11岁的男孩与一个新的综合征，影像学模仿石骨症，但特点是快速骨骼周转。他在21个月时出现鞍旁富含破骨细胞的巨细胞肉芽肿。X线片显示颅骨致密、广泛骨质疏松、皮质增厚、髓腔狭窄和管状骨建模减少。他的血清碱性磷酸酶> 5，000 IU/L（正常< 850）。部分切除后，肉芽肿重新生长，但随后消退，并在三年的简单帕米膦酸盐治疗稳定。他的高磷酸酶血症暂时减少，但所有骨转换标志物，特别是那些沉积，仍然升高。在帕米膦酸盐治疗停止两年后，腰椎和髋关节的BMD z评分分别达到+ 9.1和+ 5.8，髂嵴组织病理学证实了快速骨重建。血清多重生物标志物分析对于低硬化蛋白是显著的。LRP 4、LRP 5或TGFβ1激活以及SOST、OPG、RANKL、RANK、SQSTM 1或sFRP 1缺陷的突变分析结果为阴性。微阵列显示没有显著的拷贝数变异。对他的非血亲父母的研究并不引人注目。这种独特的综合征的病因和发病机制尚不清楚。
Among the high bone mass disorders, the osteopetroses reflect osteoclast failure that prevents skeletal resorption and turnover leading to reduced bone growth and modeling and characteristic histopathological and radiographic findings. We report an 11-year-old boy with a new syndrome that radiographically mimics osteopetrosis but features rapid skeletal turnover. He presented at age 21 months with a parasellar, osteoclast-rich giant cell granuloma. Radiographs showed a dense skull, generalized osteosclerosis, and cortical thickening, medullary cavity narrowing, and diminished modeling of tubular bones. His serum alkaline phosphatase was > 5,000 IU/L (normal < 850). After partial resection, the granuloma re-grew but then regressed and stabilized during three years of uncomplicated pamidronate treatment. His hyperphosphatasemia transiently diminished but all bone turnover markers, especially those of apposition, remained elevated. Two years after pamidronate therapy stopped, BMD z-scores reached + 9.1 and + 5.8 in the lumbar spine and hip, respectively, and iliac crest histopathology confirmed rapid bone remodeling. Serum multiplex biomarker profiling was striking for low sclerostin. Mutation analysis was negative for activation of LRP4, LRP5, or TGFβ1 and for defective SOST, OPG, RANKL, RANK, SQSTM1, or sFRP1. Microarray showed no notable copy number variation. Studies of his non-consanguineous parents were unremarkable. The etiology and pathogenesis of this unique syndrome are unknown.
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影响因子：
30.8
作者：
Kinoshita, A;Saito, T;Yoshiura, K
通讯作者：
Yoshiura, K
影响因子：
45.3
作者：
Karras, Nicole A.;Polgreen, Lynda E.;Lipsitz, Emily
通讯作者：
Lipsitz, Emily
DOI：
10.1016/j.ijom.2012.01.017
发表时间：
2012-08-01
影响因子：
2.4
作者：
Nogueira, R. L. M.;Faria, M. H. G.;Rabenhorst, S. H. B.
通讯作者：
Rabenhorst, S. H. B.
影响因子：
6.4
作者：
Pinto Borges, Bruno Barros;Fornazieri, Marco Aurelio;Voegels, Richard Louis
通讯作者：
Voegels, Richard Louis
影响因子：
6.2
作者：
Gianfrancesco, Fernando;Rendina, Domenico;Gennari, Luigi
通讯作者：
Gennari, Luigi