Osteomalacic and hyperparathyroid changes in fibrous dysplasia of bone: Core biopsy studies and clinical correlations
Osteomalacic and hyperparathyroid changes in fibrous dysplasia of bone: Core biopsy studies and clinical correlations
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DOI：
10.1359/jbmr.2003.18.7.1235
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发表时间：
2003-07-01
影响因子：
6.2
通讯作者：
Bianco, P
中科院分区：
文献类型：
--
作者：
Corsi, A;Collins, MT;Bianco, P
在 13 名患者的髂嵴活检标本中研究了 FD 骨的沉积、矿化和吸收，与 FD 患者未受影响的骨相比。与未受影响的骨相比，病变FD骨似乎对PTH和肾磷酸盐消耗的影响非常敏感，这分别导致病变骨甲状旁腺功能亢进或骨软化改变。 简介：纤维发育不良是一种遗传性非遗传性疾病，由GNAS1基因激活突变引起，导致骨和骨髓质量异常沉积。本研究旨在更多地了解病变纤维异常增生 (FD) 骨与 FD 患者未受影响骨相比的局部骨沉积、矿化和吸收过程。方法：对 13 名患者受影响和未受影响的活检标本进行组织学、组织形态测量和定量背散射电子成像 (qBSE) 分析，并与骨代谢标志物相关。结果和结论：未矿化的骨明显过量具有非板层结构的类骨质，FD 病变内矿化骨中矿物质含量减少 (p < 0.001)。在病变骨中观察到类骨质厚度 (O.Th) 与肾小管磷酸盐重吸收（以 TmP/GFR 测量）之间存在负相关性 (p = 0.05)，但在未受影响的骨中则不然，在肾磷酸盐消耗患者中未观察到骨软化的组织学或组织形态学证据。骨吸收增加的组织学和组织形态学证据在病变骨中是可变的，并且与甲状旁腺激素（PTH）的血清水平相关。在维生素 D 缺乏继发血清 PTH 升高的患者中，在纤维性发育不良骨中观察到与甲状旁腺功能亢进相关的组织学变化，但在未受影响的骨中未观察到。我们的数据表明，与未受影响的骨相比，病变FD骨对PTH和肾磷酸盐消耗的影响非常敏感，这分别导致病变骨甲状旁腺功能亢进或骨软化变化。骨软化和甲状旁腺功能亢进的变化源自不同的代谢紊乱（叠加了骨骼中 GNAS1 突变的局部影响），反过来又影响 FD 骨骼发病的严重程度和类型。
Deposition, mineralization, and resorption of FD bone compared with unaffected bone from FD patients was investigated in iliac crest biopsy specimens from 13 patients. Compared with unaffected bone, lesional FD bone seemed to be very sensitive to the effects of PTH and renal phosphate wasting, which respectively bring about hyperparathyroid or osteomalacic changes in the lesional bone.Introduction: Fibrous dysplasia is a genetic noninherited disease caused by activating mutations of the GNAS1 gene, resulting in the deposition of qualitatively abnormal bone and marrow. This study was designed to learn more about the local processes of bone deposition, mineralization, and resorption within lesional fibrous dysplasia (FD) bone compared with unaffected bone of FD patients.Methods: Histology, histomorphometry, and quantitative back-scattered electron imaging (qBSE) analysis was conducted on affected and unaffected biopsy specimens from 13 patients and correlated to markers of bone metabolism.Results and Conclusions: There was a marked excess of unmineralized osteoid with a nonlamellar structure and a reduced mineral content in mineralized bone within FD lesions (p < 0.001). A negative correlation (p = 0.05) between osteoid thickness (O.Th) and renal tubular phosphate reabsorption (measured as TmP/GFR) was observed for lesional bone, but not for unaffected bone, in which no histological or histomorphometric evidence of osteomalacia was observed in patients with renal phosphate wasting. Histological and histomorphometric evidence of increased bone resorption was variable in lesional bone and correlated with serum levels of parathyroid hormone (PTH). Hyperparathyroidism-related histological changes were observed in fibrous dysplastic bone, but not in the unaffected bone, of patients with elevated serum PTH secondary to vitamin D deficiency. Our data indicate that, compared with unaffected bone, lesional FD bone is very sensitive to the effects of PTH and renal phosphate wasting, which, respectively, bring about hyperparathyroid or osteomalacic changes in the lesional bone. Osteomalacic and hyperparathyroid changes, which emanate from distinct metabolic derangements (which superimpose on the local effects of GNAS1 mutations in bone), influence, in turn, the severity and type of skeletal morbidity in FD.