距骨肿瘤相关性低磷抗D骨软化症1例报道

肿瘤相关性低磷抗D骨软化症是由于新形成的骨基质不能正常矿化的一种代谢性骨病。该病病因之一是由肿瘤引起肾脏排磷增加而导致的获得性低血磷性骨软化症,由McCance于1947年首次描述。目前国内外文献对该病报道不足200例,发病部位主要集中在股骨和胫骨等负重部位,而未有距骨发生此病的文献报道,现有1例报道如下。     

低磷抗维生素D骨软化症2例报道

通过低磷抗维生素D骨软化症2例分析,了解其相关发病机理和临床表现,以及实验室相关异常指标和治疗体会。     

肿瘤相关性成人低血磷骨软化症1例报道

目的报道一例肿瘤相关性低磷骨软化症(tumor-induced hypophosphorus osteomalacia,TIO),提高临床医师对本病的认识。方法对该TIO患者的临床表现、实验室检查、影像学、病理检查和治疗随访结果进行分析和总结。结果该病例支持成人低血磷骨软化症诊断,手术切除右下腹包块,病理符合良性磷酸盐尿性间叶肿瘤(PMT),进一步行FGF-23组化染色,显示FGF-23(+)。术后患者血磷快速恢复正常,尿磷降低;给予适当钙剂和维生素D制剂治疗,随访12周,患者全身疼痛完全缓解,步态恢复正常;随访至24周,患者的骨转换指标、血钙磷基本维持正常;随访36周时骨密度恢复正常,获得临床治愈。结论对于无家族史成人发病的低血磷骨软化症应考虑肿瘤相关性骨软化症的可能,手术切除肿瘤是治疗的关键,FGF-23染色阳性证实了对TIO的诊断。     

肿瘤诱发低磷骨软化症骨科手术治疗策略的临床探讨

肿瘤诱发低磷骨软化症(tumor-induced osteomalacia,TIO)最早由McCane等首次报道,临床极为罕见,迄今国内外报道病例尚不足500例,故骨科医师多对该疾病认识不足,此外,TIO患者的临床表现往往缺乏特异性,临床定位、定性诊断十分困难,故极易造成误诊误治.截至目前,TIO的临床诊断已经取得了诸...     

海绵状血管瘤诱发低磷性骨软化症1例并文献复习

<正>低磷性骨软化症是以低磷血症和活性维生素D合成不足造成的以骨骼矿化不良为特征的一种疾病,主要包括X连锁低磷性佝偻病、常染色体显性低磷性佝偻病、肿瘤相关性低磷性骨软化症(tumor induced osteomalacia,TIO)3型。肿瘤源性低磷骨软化症临床少见,2014年6月5日本院收治1例海绵状血管瘤所致TIO,经手术治疗症状明显好转,经文献检索,在     

全髋关节置换术治疗肿瘤诱发低磷骨软化症:5～10年随访

背景:肿瘤诱发低磷骨软化症(tumor-induced osteomalacia,TIO)患者完全切除病因肿瘤后有较好的预后.但应用全髋关节置换术治疗位于股骨头颈部肿瘤的中长期临床效果还缺乏相关研究.目的:评估全髋关节置换术治疗TIO的中长期疗效.方法:回顾性分析在我院被诊断为TIO并于2004年12月至2015年12...     

鼻腔肿瘤相关低磷骨性软化症1例报告及文献复习

目的 了解肿瘤相关性低磷骨软化症(TIO)临床及病例特点,提高诊断治疗水平。方法 对1例TIO临床资料进行回顾性分析,并复习相关文献。结果 患者表现为进行性加重的全身骨痛、病理性骨折、血磷减少、尿磷增高,骨质疏松,人院后经鼻窦CT检查诊断左侧鼻腔内血管瘤可能性大,手术切除肿瘤病理报告证实为血管球周皮细胞瘤,术后3天复查血磷开始升高,尿磷下降,术后1个月血磷正常,患者全身疼痛改善,双下肢乏力缓解,活动恢复正常,术后6个月骨密度恢复正常。结论 对表现为乏力、骨痛、低血磷、高尿磷,骨质疏松或多发性骨折患者,体格检查或影像学检查提示有占位或肿瘤时,应首先考虑TIO。     

特发性低血磷性骨软化症l例

成年人的骨软化症是一种罕见的以骨基质矿化障碍为特点的一种慢性骨骼疾病,其结果导致非矿化的骨样组织（类骨质）堆积,骨质软化,而产生肌无力、骨痛、骨畸形、骨折等一系列临床症状和体征。病因复杂,临床上易被误诊、漏诊,甚至造成严重后果,现将中山大学附属汕头市中心医院收治的首例特发性低磷血致全身骨软化病例报告如下。     

1例低血磷性抗维生素D佝偻病的护理

低血磷性抗维生素 D佝偻病是由于肾小管回吸收磷减少所致 ,血磷降低 ( <0 .97mmol/L) ,钙磷乘积 <30 ,骨质不易钙化。本病不易早期发现 ,在佝偻病长期治疗无效时考虑本病。 2 0 0 0年我科收治 1例低血磷性抗维生素 D佝偻病患儿 ,护理体会介绍如下。1　病例简介女 ,2岁。发现“O”形腿 1年余 ,肌内注射维生素D3 ,长期口服钙剂 ,效果差。入院时 T37.2℃、P90次 /min、 R 30次 /min,体重 1 0 kg,营养一般 ,毛发稀疏 ,方颅 ,手、脚镯征阳性 ,肋骨串珠 ,鸡胸 ,双下肢呈“O”形。X线示双侧股骨下端和胫骨上端干骺端增宽 ,边缘呈毛刷状改变 ,钙…     

Burosumab in tumor-induced osteomalacia: A case report

Tumor-induced osteomalacia is a rare cause of acquired hypophosphatemia due to the paraneoplastic overproduction of fibroblast growth factor-23. Unlike many causes of osteomalacia, tumor-induced osteomalacia is curable by resection of the offending tumor. If a patient has a tumor that is unidentifiable, unresectable, or makes the decision to forgo surgery, medical treatment is recommended. Burosumab (KRN23) is a fully human monoclonal antibody against fibroblast growth factor-23 that was recently approved for the treatment of X-linked hypophosphatemia. We present a case of tumor-induced osteomalacia due to two somatostatin receptor avid meningiomas. The patient initially was wheelchair bound due to symptoms of diffuse bone and muscle pain with recurrent traumatic and nontraumatic fractures. Serum phosphate was 1.8 mg/dL (reference range: 2.4–5.0 mg/dL) with no other laboratory or historical cause. Workup revealed two widely separated intracranial meningiomas with typical magnetic resonance imaging characteristics. The duplicity of tumors precluded safe surgery and the potential delay in, or lack of, efficacy using radiosurgery prompted the treatment team to opt for medical treatment. Burosumab was initiated resulting in improvement in pain symptoms and mobility. Serum phosphate normalized. Trials are ongoing to assess the utility of burosumab in the treatment of tumor-induced osteomalacia.     

肿瘤性骨软化症1例

正患者,男,58岁,因"反复腰背部疼痛2年余,双下肢乏力1年余,加重6月"于2016年5月16日入院。患者2年前无明显诱因出现腰背部疼痛伴有下坠感,四肢乏力,当时未予重视,后腰背痛与四肢乏力症状进行性加重,无法行走,需轮椅代步,生活无法自理。先后于当地医院抗骨质疏松治疗,但疼痛未见明显好转。2014年10月至2015年2月,患者因腰背部疼痛多次住院治疗,全身骨骼ECT示:全身     

Oncogenic osteomalacia: Problems in diagnosis and long-term management

Oncogenic osteomalacia is a rare association between mesenchymal tumors and hypophosphatemic rickets. It is more of a biochemical entity than a clinical one. The pathophysiology of the tumor is not clear. However, it has been seen that the clinical and biochemical parameters become normal if the lesion responsible for producing the osteomalacia is excised. For a clinical diagnosis a high index of suspicion is necessary. We present three such cases where in one the oncogenic osteomalacia reversed while in rest it did not. We present this case report to sensitize about the entity.     

Hypophosphatemic osteomalacia in von recklinghausen's neurofibromatosis

a 56-year- old man with hypophosphatemic osteomalacia occuring in Von Recklinghausen's neurofibromatosis was treated orally with high-dose 1α-OH-D₃ (alphacalcidol), given in combination with a neutral phosphate mixture (equivalent to 1.2 g day of phosphorus) and calcium lactate (3 g day). Symptoms resolved together with normalization of the serum alkaline phosphatase actively. Subsequently, normal levels of the serum phophorus and serum calcium were recovered. The roentgenograms showed increased bone density after treatment. A decrease in oteoid coupled with an increase in mineralized bone was demonstrated when bone biopsy specimens were observed after preparation without decalcification.     

成纤维细胞生长因子-23与肿瘤源性骨软化症

肿瘤源性骨软化症是一种少见的副肿瘤综合征,其病理机制尚不清楚.近年研究发现,肿瘤源性骨软化症患者血磷水平降低而成纤维细胞生长因子(FGF)-23水平显著增高,两者呈负相关性.FGF-23既可抑制肾脏对磷的重吸收及维生素D3活化,又可负性调节成骨细胞分化和基质矿物化.肿瘤源性骨软化症患者肿瘤切除后血FGF-23水平可恢复正常,低磷血症即获纠正,表明FGF-23与肿瘤源性骨软化症的病理生成密切相关.该文就FGF-23表达特点及其在肿瘤源性骨软化症发病机制中的作用等方面的研究进展作一综述.     

Surgical treatment of tumor-induced destruction of the spine

Surgery for treatment of destructions of the spine varies depending on localization and tumour status. If the body of the vertebra is affected, the ventral approach allows radical tumour resection as far as possible. The following stabilization is effected by filling the defect and carrying out osteosynthetical fusion. Of 38 patients, three had benign tumours, whereas ten patients had primary malignant and 25 had metastatic tumours. The results show that surgical treatment is justified also in palliative indications; although survival time is not prolonged, the quality of life can be improved.     

甲状腺功能亢进症合并骨软化1例并文献复习

甲状腺功能亢进(简称甲亢)是导致碱性磷酸酶升高的原因之一,在甲亢的治疗过程中,如碱性磷酸酶进行性升高,伴骨痛,不能排除骨软化的可能性,值得引起注意。随着对代谢病骨病研究的深入,骨软化患者逐渐增多,病因包括维生素D摄入不足、维生素D吸收和代谢障碍、肾脏疾病(肾病综合征、慢性肾衰、肾小管酸中毒、范可尼综合征等),以及遗传性和肿瘤性低磷性骨软化,其他如重金属中毒、高氟摄入、某些药物等。然而,甲状腺功能亢进症患者出现骨质疏松多见,出现骨软化者较少见,罕有报道,容易漏诊和误诊。本文报道l例甲状腺功能亢进患者口服赛治(甲巯咪唑)后碱性磷酸酶进行性升高,伴全身骨痛,应用骨化三醇后碱性磷酸酶逐渐下降和骨痛消失。为此,甲亢治疗期间,结合国外文献报告,考虑骨软化可能性较大,密切观察患者碱性磷酸酶变化,给予积极对症治疗后,骨软化症状明显缓解。因此,应重视碱性磷酸酶的变化及临床特点,以明确是否合并骨软化并予尽早处理。     

Cinacalcet in the management of tumor-induced osteomalacia.

Both FGF-23 and PTH inhibit renal phosphate reabsorption. We treated two patients with TIO and FGF-23-mediated hypophosphatemia with cinacalcet to test the hypothesis that medicinally induced hypoparathyroidism would decrease renal phosphate wasting. Cinacalcet treatment resulted in increased renal phosphate reabsorption, allowed for a decrease in phosphate supplementation, and showed evidence of bone healing in one of the two patients. INTRODUCTION: Tumor-induced osteomalacia (TIO) is a rare, acquired disease of renal phosphate wasting, which results in hypophosphatemia and osteomalacia. It is caused by mesenchymal tumors that produce the phosphate and vitamin D-regulating hormone, fibroblast growth factor (FGF)-23. Removal of the tumor is curative, but the tumors are often difficult to locate. Medical treatment involves high doses of oral phosphate and calcitriol, but the phosphate is often poorly tolerated and leads to diarrhea. Because PTH also promotes phosphaturia, and patients with hypoparathyroidism are hyperphosphatemic in the setting of elevated serum FGF-23, we postulated that the calcium-sensing receptor agonist, cinacalcet, which can induce hypoparathyroidism, would be an effective adjuvant in the treatment of TIO. MATERIALS AND METHODS: Two subjects with presumed TIO in whom the tumor was not located after extensive testing and who did not tolerate medical therapy with phosphorus and calcitriol were treated with cinacalcet. RESULTS: Neither treatment with phosphorus nor combined treatment with phosphorus and calcitriol had an effect on serum FGF-23 levels. Treatment with cinacalcet resulted in increased renal phosphate reabsorption and serum phosphorus and allowed for a decrease in phosphate supplementation to a dose that was tolerated. On this regimen, one patient showed significant bone healing as shown by resolution of activity on bone scan and lack of osteomalacia as assessed by histomorphometry. CONCLUSIONS: These data show that medically induced hypoparathyroidism with cinacalcet is a therapeutic option for disorders of FGF-23-mediated hypophosphatemia and that, in the absence of PTH, the phosphaturic effect of FGF-23 is decreased.