Natural history and treatment of fibrous dysplasia of bone: a multicenter clinicopathologic study promoted by the European Pediatric Orthopaedic Society
Natural history and treatment of fibrous dysplasia of bone: a multicenter clinicopathologic study promoted by the European Pediatric Orthopaedic Society
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DOI：
10.1097/00009957-200305000-00001
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发表时间：
2003-05-01
影响因子：
1.1
通讯作者：
Bianco, P
中科院分区：
文献类型：
--
作者：
Ippolito, E;Bray, EW;Bianco, P
1999年，欧洲儿科骨科学会推动了一项关于骨纤维异常增殖症(FD)的多中心研究，以深入了解该病的自然历史，并评估目前的诊断和治疗方法。我们尽可能收集和回顾临床、放射学、病理学和分子遗传学数据，这些数据来自11个参与中心评估或治疗的单纯性FD、多发性骨质疏松性FD或麦考恩-奥尔布赖特综合征的患者。该系列的初步分析结果表明了五个要点：(1)重大的诊断缺陷影响MFD的诊断，在较小程度上影响整形外科中心和相关放射和病理机构的PFD的诊断，这可以通过采用严格的诊断标准来规避，在某些情况下可以通过分析与FD相关的GNAS1突变来规避。(2)在股骨近端疾病有限的情况下，MFD具有很大的骨折风险，而其进展趋势仅限于少数病例，在非进展病例中，无论采用何种治疗，其长期结果通常是令人满意的。(3)无论是MFD还是PFD，胫骨病变与股骨病变均有明显不同。(4)不出所料，MAS患者的疾病范围最广，病程最复杂，经常发生多处骨折，需要适当的手术治疗。在这些患者中，保守治疗股骨骨折，或刮除或松质骨移植，或用螺钉和钢板固定，似乎并不适用于股骨骨折的治疗，因此都不应被鼓励。髓内钉内固定可以稳定广泛受影响的骨骼，防止进一步骨折和严重畸形，从而为广泛累及股骨或其他四肢长骨的患者提供了一种更好的急性和择期手术选择。(5)在骨科中心对FD患者的评估应包括(但很少包括)对内分泌和磷酸盐代谢的彻底评估，以及适当的病理和放射学评估。(C)2003年，里平科特·威廉姆斯·威尔金斯。
A multicenter study on fibrous dysplasia of bone (FD) was promoted by the European Pediatric Orthopaedic Society in 1999 in order to gain insight into the natural history of the disease and to evaluate current diagnostic and therapeutic approaches. We collected and reviewed clinical, radiographic, pathological, and molecular genetic data when possible, from a total of 64 cases diagnosed as either monostotic FD (MFD), polyostotic FD (PFD), or McCune-Albright syndrome (MAS), evaluated or treated in 11 participating centers. Results from the initial analysis of the series indicate five main points: (1) Significant diagnostic pitfalls affect the diagnosis of MFD and, to a lesser extent, PFD in orthopedic centers and allied radiology and pathology facilities, which may be circumvented by the adoption of stringent diagnostic criteria, and in some cases by the analysis of FD-associated GNAS1 mutations. (2) MFD carries a significant risk for fracture in the face of limited disease in the proximal femur, whereas its tendency to progress is restricted to a minority of cases, and long-term outcome is usually satisfactory, regardless of treatment, in non-progressive cases. (3) The profile of tibial disease, both in MFD and in PFD, is markedly different from that of femoral disease. (4) As expected, MAS patients have the most extensive disease and the most complicated course, regularly experience multiple fractures, and require adequate surgical treatment. It appears that conservative treatment of femoral fracture, or curettage and cancellous bone grafting, or fixation with screws and plates are not indicated for the treatment of femoral fractures in these patients and should all be discouraged. Internal fixation with intramedullary nails provides stabilization of extensively affected bones, and prevents further fractures and major deformities, and thus providing a better option both for acute and elective surgery in patients with extensive involvement of the femur or of other limb long bones. (5) Evaluation of patients with FD at orthopedic centers should include, but rarely does, a thorough evaluation of endocrine profile and phosphate metabolism, and proper pathological and radiographic assessment. (C) 2003 Lippincott Williams Wilkins.