畸形性骨炎的临床及影像学表现

目的 分析畸形性骨炎的临床及影像学表现.方法 回顾性分析8例畸形性骨炎的临床及影像学表现.结果 8例中6例为多骨病变,2例为单骨病变.受累骨X线平片均表现外形增大、增粗,骨小梁增粗,夹杂片状低密度区,均无骨膜反应和软组织肿块.CT扫描显示骨外形改变,骨小梁增粗,骨小梁间为正常脂肪密度.MRI检查显示骨外形变化,粗大骨小梁,骨髓腔内为正常脂肪信号.合并骨折时可出现相应表现.4例进行病理学检查,只有1例提示为畸形性骨炎.结论 畸形性骨炎有典型影像学表现,是诊断依据之一.熟悉畸形性骨炎的影像学表现可以减少误诊.     

畸形性骨炎研究进展

畸形性骨炎是局限性骨重建异常的疾病 ,其病因尚未完全阐明 ,认为主要是病毒感染和遗传因素。易感基因定位于染色体 1 8q2 1 2 2 ,其确切发病机理还不清楚 ,可能由于基因突变或受损后增加破骨细胞和其前体对麻疹病毒或亚粘液病毒等的易感性而致病。治疗药物有降钙素和二膦酸盐 ,近年更多采用新一代二膦酸盐制剂能显著缓解症状 ,控制病情发展 ,且副作用较少。     

阿仑膦酸钠治疗骨质疏松症研究进展

阿仑膦酸钠是氨基二膦酸盐类骨吸收抑制剂,其可抑制破骨细胞活性,降低骨转换,增加骨密度(BMD),提高骨强度,有效预防骨折.目前,该药已广泛用于治疗和预防绝经后妇女骨质疏松症(PMO)、男性骨质疏松症(0P)、糖皮质激素(GC)引起的OP、高钙血症和变形性骨炎等.     

二膦酸盐在成骨不全疾病中的应用

成骨不全是一种以脆骨症为典型特征的遗传性结缔组织疾病,该病最严重的后果为骨脆弱所导致的频繁骨折、继发性骨骼畸形,90%的成骨不伞是I型胶原基因突变所致.临床研究证实,二膦酸盐可抑制破骨细胞活性,增加骨密度、降低骨折发生率、改善患者生活质量,是目前内科对成骨不全治疗的有效手段.本文就二膦酸盐的作用机制、治疗方法、疗效、不良反应及存在的问题等予以综述.     

Gorham-Stout综合征五例临床分析并文献复习

目的 探讨Gorham-Stout综合征(GSS)患者的临床、骨影像及组织病理特点及其诊断、治疗和预后.方法 回顾性分析1980年1月至2008年1月北京协和医院收治的5例GSS患者的临床资料并进行文献复习.结果 (1)5例患者中男2例,女3例;年龄15～37岁,平均30.2岁.(2)5例患者均有不同部位、不同程度的骨破坏,3 例合并大最胸腔积液,均为血性渗出液;其中2 例为乳糜性胸腔积液.所有患者均无恶性肿瘤的依据.4 例接受骨组织活检,其中2例接受局部穿刺及切开活检,有典型的骨病理表现.(3)采用二膦酸盐、钙剂+活性维生素D3、病变部位的放疗、胸导管结扎等治疗方法.(4)转归:5例患者中,仅有骨病变的2例病情平稳,合并胸腔积液的3例患者中,1例骨病变相对稳定,但需间断放胸腔积液,2例失访.结论 GSS是一以渐进性溶骨性改变为主要表现的罕见病,临床表现取决于受累部位.目前没有确切的治疗方法;合并胸腔积液时预后差.     

畸形性骨炎研究进展

畸形性骨炎是局限性骨重建异常的疾病，其病因尚未完全阐明，认为主要是病毒感染和遗传因素。易感基因定位于染色体１８ｑ２１－２２，其确切发病机理还不清楚，可能由于其中突变或受损后增加破骨细胞和其前体对麻疹病毒或亚粘液病毒等的易感性而致病。治疗药物有降钙素和二膦酸盐，近年更多采用新一代二膦酸盐制剂能显著缓解症状，控制病情发展，且副作用较少。     

99Tc-亚甲基二膦酸盐治疗股骨头坏死动物研究及初步临床应用

目的 地塞米松诱导兔股骨头坏死后用^99Tc-亚甲基二膦酸盐治疗并观察疗效，以供初步临床应用于中、晚期股骨头无菌性坏死参考，了解^99Tc-亚甲基二膦酸盐的治疗价值。方法 新西兰白兔33只为动物模型制作材料，其中18只采用注射地塞米松针剂建立股骨头坏死模型，模型建立后分成3组，每组6只；正常对照组、股骨头坏死模型组和股骨头坏死模型^99Tc-亚甲基二膦酸盐治疗组。^99Tc-亚甲基二膦酸盐治疗14周后取实验兔股骨头作病理切片,分析^99Tc-亚甲基二膦酸盐治疗前、后股骨头X线、CT摄片、^99Tc-MDP骨显像检查结果。临床明确诊断为股骨头无菌性坏死患者67例，分为^99Tc-亚甲基二膦酸盐治疗组39例和传统保守治疗对照组28例。治疗40周后比较^99Tc-MDP骨显像、X线摄片、CT检查，同时结合患者的症状作出综合评价。结果采用肌肉注射地塞米松针剂4周的新西兰白兔病理证实股骨头骨质疏松伴坏死模型成立。在^99Tc-亚甲基二膦酸盐治疗前、后时间内取各组实验兔股骨头X线、CT摄片、^99Tc-MDP骨显像和病理分析比较：正常对照组无变化，股骨头坏死模型组对照组股骨头骨质疏松加重，模型^99Tc-亚甲基二膦酸盐治疗组的股骨头骨质疏松有较明显的改善。临床所采用^99Tc-亚甲基二膦酸盐治疗组40周随访结果：^99Tc-亚甲基二膦酸盐治疗组中6例改善，31例稳定，仅2例无效。常规保守治疗对照组6例稳定，19例无效，仅3例改善。结论 ^99Tc-亚甲基二膦酸盐是一种核素锝-99(^99Tc)标记二膦酸盐的化合物，动物试验结果显示对骨质疏松有较明显的稳定病情发展和镇痛作用，部分有修复作用。初步临床应用表明：^99Tc-亚甲基二膦酸盐治疗组与传统保守治疗对照组比较，前者治疗骨头无菌性坏死疗效较明显。     

畸形性骨炎伴低血钙、低血磷一例

报道1例畸形性骨炎,又称Paget骨病(Paget's disease,PD)伴低血钙、低血磷病例。患者是围绝经期女性,以骨痛,血碱性磷酸酶增高以及骨骼影像学特征性病变明确诊断为Paget骨病,用唑来膦酸治疗后骨痛减轻,X线片提示多骨损害有好转。但是,不同于典型Paget骨病,该患者血钙、血磷及维生素D水平降低,甲状旁腺素增高。本文结合文献复习,总结分析伴钙、磷代谢异常Paget骨病的临床表现、实验室检查和治疗情况,以期提高临床医师对本病的认识、为临床诊治积累更多经验。     

McCune-Albright综合征合并低血磷性佝偻病4例并文献复习

目的：总结4例McCune-Albright综合征合并低血磷性佝偻病患者的临床资料,以提高临床医师对该病的认识。方法回顾性分析北京协和医院确诊的4例McCune-Albright综合征合并低血磷性佝偻病患者的临床表现、实验室检查、影像学特点、治疗及转归,并进行文献复习。结果临床特点：4例McCune-Albright综合征合并低血磷性佝偻病患者均为女性,10岁前起病,均为多骨型骨纤维异样增殖症,主要临床表现为骨痛、骨骼畸形和脆性骨折。其中2例合并甲状腺功能亢进,2例合并周围性性早熟。实验室检查：4例患者均显示低磷血症（0.53～1.03mmol/L）和高碱性磷酸酶水平（464～1930U/L）,3例患者血β-1型胶原交联羧基末端肽（β-CTX）水平升高,2例患者血全长成纤维细胞生长因子23（intactFGF23）水平升高。影像学特点：4例患者影像学检查结果均符合骨纤维异常增殖症。其中3例患者有典型的佝偻病表现。4例患者均接受全身骨扫描显像,3例患者全身骨骼多发放射性浓聚区。治疗及转归：经给予活性维生素D、中性磷合剂和双膦酸盐,患者的临床症状和生化异常均显著改善。复习文献发现,患者起病越早,骨骼病变相对越重、血磷越低、骨转换指标升高越明显、血FGF23水平越高。结论McCune-Albright综合征合并低血磷性佝偻病是罕见病。对McCune-Albright综合征患者需注意筛查是否合并低血磷性佝偻病,以避免漏诊,改善预后。     

肺性肥大性骨关节病的骨显像特征及临床意义

目的 观察各种肺疾患肺性肥大性骨关节病(HPO)的发生率、治疗后HPO的消失率以及骨显像的特征及临床意义.方法 对360例各种肺疾患患者的亚甲基二膦酸盐核素骨显像作回顾性分析.结果 360例各种肺疾患患者HPO的发生率为4.7%,其中肺癌患者为4.7%,肺部良性疾患为4.8%.16例肺癌经手术或化疗后HPO消失14例....     

Bone and joint symptoms in Paget''s disease.

Fifty patients with Paget's disease of bone were reviewed with regard to the basis of their symptoms and the long-term results of treatment. Twenty-four patients (48%) presented with pain localised within bone, while 17 (34%) presented with symptoms of degenerative joint disease. Three patients presented with bone pain and arthritis and the remaining six with fractures, ataxia, or painless deformity. Symptomatic osteoarthritis of the hip (OA) developed in 25 patients (50%) with approximately half developing radiological changes identical to those of idiopathic OA. Among the other patients those with coxa vara tended to show medial (rather than superior) joint space narrowing and severe Paget's disease on both sides of the joint. Arthritic pain, stiffness, and reduced mobility in other joints (knee, ankle, and wrist) were associated clinically with bone deformity adjacent to the affected joint and radiologically with distorted articular surfaces and narrowed joint spaces; sclerosis, subarticular cyst formation, and osteophytosis were usually absent. Fifteen patients were treated with calcitonin for bone pain alone; all claimed long-term 'good to complete' relief. By contrast, none of the 14 with arthritic symptoms responded to calcitonin when assessed retrospectively. Results of surgical and other medical treatment were analysed. Careful clinical evaluation is a prerequisite for optimal treatment in Paget's disease.     

Management of Paget's disease of bone

Paget's disease of bone is a common condition with a strong genetic component, characterized by focal increases in bone turnover, affecting one or more bones throughout the skeleton. Paget's disease can be asymptomatic but is frequently associated with bone pain, bone deformity, pathological fracture, secondary osteoarthritis and deafness. Inhibitors of osteoclastic bone resorption, such as bisphosphonates and calcitonin, suppress bone turnover and improve bone pain in Paget's disease. Many patients also require therapy with analgesics and anti-inflammatory agents, since pain in Paget's disease can arise not only from increased bone turnover but also from complications such as osteoarthritis and nerve compression syndromes, which do not respond well to antiresorptive therapy. Comparative studies have shown that second- and third-generation bisphosphonates, such as tiludronate, alendronate and risedronate, are more effective than etidronate at inhibiting bone turnover in Paget's disease but they have not been found to be significantly more effective in controlling bone pain. Importantly, none of the treatments that are currently available for Paget's disease have been shown to prevent complications such as deafness, fracture or bone deformity, or to alter the natural history of the disease. More research is required to define the long-term effects of antiresorptive treatment on clinical outcomes in Paget's disease, so that clinicians and their patients can make better-informed choices about the risks and benefits of treatment.     

骨Paget病

为提高对Paget病诊断的认识,报告7例骨Paget病,其中5例有骨和关节的疼痛,2例分别为肾结石、骨关节炎就诊时偶发,骨侵犯的部位以头、脊柱、骨盆、四肢长骨最为常见,血碱性磷酸酶(AKP)7例皆显著升高。X线片和核素(99mTc)扫描(ECT)7例患者皆有不同部位的骨密度增高及核素摄取增加区,1例头颅X线片呈穿凿样改变和颅骨增厚。对骨关节疼痛特别是中年以上的患者,X线和ECT检查异常结合血AKP和尿HP升高,对提高骨Paget病的诊断率有很大的帮助。降钙素和二磷酸盐是常用的治疗药。     

Pathogenesis and management of Paget's disease of bone

Paget's disease of bone is a common disease characterised by focal areas of increased bone turnover, affecting one or several bones throughout the skeleton. Paget's disease is often asymptomatic but can be associated with bone pain and other complications such as osteoarthritis, pathological fracture, bone deformity, deafness, and nerve compression syndromes. Genetic factors have an important role in this disease, and mutations have been identified in four genes that cause Paget's disease and related syndromes. The most important of these is Sequestosome 1 (SQSTM1), which is a scaffold protein in the nuclear factor kappaB (NFkappaB) signalling pathway. Patients with SQSTM1 mutations have severe Paget's disease of bone and a high degree of penetrance with increasing age. Environmental factors also contribute. Most research has focused on paramyxovirus infection as a possible trigger, but evidence for this notion is conflicting. Other potential triggers include deficiency of dietary calcium and repetitive mechanical loading of the skeleton. Medical management of Paget's disease of bone is based on giving inhibitors of osteoclastic bone resorption, and bisphosphonates are the treatment of first choice. Bisphosphonate therapy is primarily indicated for patients who have bone pain arising from increased metabolic activity in affected bones. Bisphosphonate therapy is highly effective at reducing bone turnover, and it has been shown to heal radiological lesions and restore normal histology; however, the long-term effects of bisphosphonates on disease progression have not been adequately studied. No firm evidence as yet exists to show that bisphosphonates can prevent the development of complications of Paget's disease of bone, and further work is needed to address the effects of treatment on long-term clinical outcome.     

Paget’s disease of bone: Diagnosis and treatment update

Paget's disease is a metabolic bone disease characterized by excessive bone resorption and formation due to activated osteoclasts. Although Paget's disease is a high bone turnover state, the excess bone that is formed lacks the structural stability of normal bone. Complications from Paget's disease include deformity, fracture, and pain. Although still unclear, both prevalence and severity of Paget's disease seem to be declining. Recent progress has focused on the environmental as well as genetic etiologies for this disease. Many studies indicate a role for viral infectious agents, whereas others point to a recently identified candidate gene on chromosome 18q. Therapy with bisphosphonate drugs is the treatment of choice. With newer and more powerful agents from this family now available, the majority of patients affected by Paget's disease can achieve sustained remission and avoid complications.     

Treatment of Paget''s disease of bone with single dose intravenous pamidronate.

OBJECTIVES--To assess the efficacy of a single intravenous infusion of pamidronate in Paget's disease of bone. METHODS--Fourteen patients with active Paget's disease (raised serum alkaline phosphatase, bone pain or neurological involvement) were treated with a single intravenous infusion of 105 mg pamidronate. Patients were assessed for biochemical and clinical improvement for up to two years following treatment. A further infusion was given following symptomatic relapse (pain at a known site of pagetic involvement). RESULTS--Serum alkaline phosphatase fell following treatment, with a nadir 5.9 months after treatment. Bone pain was improved in nine of 12 patients after six months. Retreatment of four patients resulted in a similar response. CONCLUSION--Single dose intravenous pamidronate (105 mg) is a convenient and effective treatment for Paget's disease.     

Paget's disease of bone and its complications due to delay in diagnosis

Paget's disease of bone is an osteometabolic focal disease characterized by defects in bone remodeling. It may be asymptomatic, but often is associated with bone pain, deformity, pathological fracture, secondary osteoarthrosis and deafness. The diagnosis is usually made by radiological and laboratory findings. This report describes a male patient, 74 years old, native of Amazon, without European ancestry, with polyostotic Paget's disease, with clinical, radiological and laboratory diagnosis after 30 years of disease. The authors emphasize several complications of Paget's disease due to delayed diagnosis and the rarity of the disease in this population group.     

Response of Paget's disease to human calcitonin in patients resistant to porcine calcitonin

Eleven patients with Paget's disease of bone, treated intermittently for 2-4 years with porcine calcitonin (pCT) and clinically resistant to pCT [no modifications of serum alkaline phosphatase (ALP) and urinary hydroxyproline ( uHOP ) during pCT administration] were treated with 0.5-0.25 mg/day of human calcitonin (hCT) for 3-6 months. Nine of our patients showed biochemical improvement during the first 2 months of treatment, with reduction in ALP and uHOP . In one patient with slightly increased ALP and uHOP , and in another one during the second treatment course, hCT treatment did not modify the biochemical indices of bone disease. However all patients, including those with biochemical resistance, experienced a remarkable diminution of bone pain, which had not been observed during previous pCT treatment courses. Therefore, hCT appears to be indicated for therapeutic use in patients who are resistant to foreign calcitonins.     

A single infusion of the bisphosphonate AHPrBP (APD) as treatment of Paget's disease of bone

PURPOSE: Disabling pain, skeletal deformity, or risk of joint involvement characterize Paget's disease of bone. Because the disease often affects the elderly, for whom compliance is a problem, we investigated therapy with a single intravenous infusion of amino-hydroxypropylidene bisphosphonate (AHPrBP, previously APD). PATIENTS and METHODS: Eleven patients with mild but symptomatic Paget's disease and one patient with very severe disease were treated with AHPrBP administered as a single intravenous infusion of 60 mg over 24 hours. Follow-up with clinical and biochemical evaluations was performed over six months for all patients, and over one year for seven patients. RESULTS: Clinical improvement and normalization of biochemical parameters were observed in all patients except one with extremely severe disease. On average, plasma alkaline phosphatase activity fell progressively and significantly from 256 +/- 29 U/liter (mean +/- SEM) to 97 +/- 6 U/liter after six months, and to 102 +/- 11 U/liter after one year (normal: less than 120 U/liter). Urinary excretion of hydroxyproline decreased within seven days to normal (from 4.3 +/- 0.5 mumol/liter of glomerular filtrate [lGF] to 1.7 +/- 0.2 mumol/lGF; normal: 2.2 mumol/lGF). Thereafter, it remained within the normal range until one year (1.8 +/- 0.2 mumol/lGF after six months and 1.9 +/- 0.3 mumol/lGF after one year). Side effects were negligible. Two patients noted only a transient increase in body temperature. When bone scintigraphy was repeated after six months, it revealed a marked decrease of the activity of the disease. CONCLUSION: Due to the important and sustained inhibition of bone resorption induced by AHPrBP, a single infusion of 60 mg of the bisphosphonate leads to a rapid decline in activity and a long-standing remission of moderate Paget's disease, without significant side effects.     

Long term effects of dichloromethylene diphosphonate in Paget's disease of bone

Dichloromethylene diphosphonate (Cl2MDP) is a diphosphonate which markedly inhibits bone resorption. We have tested Cl2MDP in Paget's disease, a disorder characterized by increased bone remodeling. Sixty-three patients with progressive Paget's disease were treated for 6 months with Cl2MDP at daily oral doses of 400, 800, 1600, or 2400 mg. Thirty-nine patients received calcium and vitamin D supplements during treatment. patients in all treatment groups had significant reduction in serum alkaline phosphatase, urinary hydroxyproline, skeletal uptake of 99mtechnetium-diphosphonate scintiscans, and resorption parameters on iliac crest biopsy samples as assessed by quantitative histomorphometry. Treatment was well tolerated and did not induce a skeletal mineralization defect. The reduction in alkaline phosphatase and urinary hydroxyproline persisted 1 yr after withdrawal of treatment. The biochemical remission was sustained in half of the patients 2 yr after the end of treatment and was accompanied by a marked reduction of bone pain. a daily dose of 800 mg is recommended as the best of control of clinical and biochemical symptoms. The transient increase in iPTH levels observed in patients treated with Cl2MDP alone did not occur when calcium and vitamin D were added. We conclude that Cl2MDP is effective in the treatment of Paget's disease of bone and provides a prolonged response. Dietary supplementation with calcium and vitamin D is desirable to prevent secondary hyperparathyroidism.