Osteomalacia In Patients Research Articles

Prudence for Deformity Correction in Surgically Treated Tumour-Induced Osteomalacia Patients.

Prudence for Deformity Correction in Surgically Treated Tumour-Induced Osteomalacia Patients.

Long-term outcome of surgical correction of lower limb deformities with intramedullary reinforcement against the background of osteomalacia in an adult patient with hypophosphatemic rickets (rare clinical observation)

Relevance. Relapses of deformities of the lower extremities after their surgical correction in patients with hypophosphatemic rickets reach 95%, which requires improved approaches to the treatment of this pathology. The aim of the study was to study the efficacy and safety of staged surgical treatment, including osteotomy, sequential transosseous and intraosseous blocking osteosynthesis-reinforcement, in a patient with completed growth, suffering from X-linked dominant form of hypophosphatemic rickets. Materials and methods. A patient with completed growth with an X-linked dominant form of hypophosphatemic rickets at the age of 21–28 years underwent 11 operations on the lower extremities due to their pronounced multiplanar multiapical deformities, segment length inequality against the background of osteomalacia. Simultaneous corrections were made on the femurs using osteotomies and intraosseous blocking osteosynthesis-reinforcement. On the bones of the lower legs, staged corrections were performed using osteotomies, bone autoplasty, sequential transosseous and intraosseous blocking osteosynthesis-reinforcement. Results. The inequality of the lengths of the femurs and lower legs is eliminated. The axes of the lower extremities were corrected to normal. The patient's height has increased by 8 cm. He walks up to 25,000 steps a day without additional support. When observing the patient for 8 years, no relapses of deformities and other complications were noted. Conclusion. Our experience testifies to the high efficiency and safety of staged surgical treatment using osteotomies, transosseous and intraosseous blocking osteosynthesis-reinforcement for the correction of pronounced multiplanar multiapical deformities, inequality in the length of the bones of the lower extremities against the background of osteomalacia in the patient with completed growth, suffering from an X-linked dominant form of hypophosphatemic rickets.

Tumour induced osteomalacia in patients with malignancy: a meta-analysis and systematic review of case reports.

Tumour induced osteomalacia (TIO) due to FGF23 overexpression is becoming recognized in patients with malignancy. The condition may be underdiagnosed, with a scarce medical literature. To perform a meta-analysis of case reports to allow a better understanding of malignant TIO and its clinical implications. Full-texts were selected according to strict inclusion criteria. All case reports were included where patients had hypophosphatemia, malignant TIO, and FGF23 blood levels. 32/275 eligible studies (n = 34 patients) met inclusion criteria. A list of desired data was extracted and graded for methodological quality. Prostate adenocarcinoma (n = 9) were the most tumours reported. 25/34 patients had a metastatic disease and a poor clinical outcome was reported for 15/28 patients. The median levels of blood phosphate and C-terminal FGF23 (cFGF23) were 0.40 mmol/L and 788.5 RU/mL respectively. For most of patients, blood PTH was elevated or within range, and calcitriol levels were inappropriately low or normal. Alkaline phosphatase concentrations were increased for 20/22 patients. The cFGF23 values were significantly higher for patients with a poor clinical outcome when compared to other patients (1685 vs 357.5 RU/mL). In case of prostate cancer, cFGF23 levels were significantly lower (429.4 RU/mL) than for other malignancies (1007.5 RU/mL). We report for the first time a detailed description of the clinical and biological characteristics of malignant TIO. In this context, FGF23 blood measurement would be of value for the diagnostic work-up, prognostication and follow-up of patients.

Novel Therapeutic Agents for Rare Diseases of Calcium and Phosphate Metabolism.

The last decade has been revolutionary regarding the management of rare bone diseases caused by impaired calcium and phosphate metabolism. Elucidation of the underlying genetic basis and pathophysiologic alterations has been the determinant factor for the development of new, disease-specific treatment agents. The phosphaturic hormone Fibroblast Growth Factor 23 (FGF23) possesses a critical role in the pathogenesis of various hypophosphatemic disorders. Among them, the genetic disorder of X-linked hypophosphatemia and the acquired syndrome of tumor-induced osteomalacia, although very rare, have attracted the scientific community's attention towards designing an FGF23-inhibitor as a potential specific therapy. The monoclonal antibody burosumab was approved for the treatment of children and adult patients with X-linked hypophosphatemia and recently for tumor-induced osteomalacia patients, demonstrating benefits regarding their symptoms, biochemical profile and bone mineralization status. Asfotase alfa is a hydroxyapatite-targeted recombinant alkaline phosphatase, an enzymatic replacement therapy, substituting the defective activity of tissue non-specific alkaline phosphatase, in patients suffering from hypophosphatasia. Promising data regarding its favorable effect on survival rate, bone quality, fracture healing, muscle strength, mobility, respiratory function, and general quality of life have led to the approval of the drug for the treatment of childhood-onset hypophosphatasia. Given the high costs of treatment for both agents and their limited clinical use until now, more data are needed to define patients' characteristics that make them ideal candidates for therapy. Long-term safety issues also need to be clarified.

Rapid Nontranscriptional Effects of Calcifediol and Calcitriol.

Classically, a secosteroid hormone, vitamin D, has been implicated in calcium and phosphate homeostasis and has been associated with the pathogenesis of rickets and osteomalacia in patients with severe nutritional vitamin D deficiency. The spectrum of known vitamin D-mediated effects has been expanded in recent years. However, the mechanisms of how exactly this hormone elicits its biological function are still not fully understood. The interaction of this metabolite with the vitamin D receptor (VDR) and, subsequently, with the vitamin D-responsive element in the region of specific target genes leading to the transcription of genes whose protein products are involved in the traditional function of calcitriol (known as genomic actions). Moreover, in addition to these transcription-dependent mechanisms, it has been recognized that the biologically active form of vitamin D3, as well as its immediate precursor metabolite, calcifediol, initiate rapid, non-genomic actions through the membrane receptors that are bound as described for other steroid hormones. So far, among the best candidates responsible for mediating rapid membrane response to vitamin D metabolites are membrane-associated VDR (VDRm) and protein disulfide isomerase family A member 3 (Pdia3). The purpose of this paper is to provide an overview of the rapid, non-genomic effects of calcifediol and calcitriol, whose elucidation could improve the understanding of the vitamin D3 endocrine system. This will contribute to a better recognition of the physiological acute functions of vitamin D3, and it could lead to the identification of novel therapeutic targets able to modulate these actions.

Case report: Osteomalacia due to bisphosphonate treatment in a patient on hemodialysis

BackgroundNo publications have reported on osteomalacia in patients receiving intermittent cyclical therapy with etidronate (a bisphosphonate) and undergoing long-term hemodialysis (HD).Case presentationWe report on a 46-year-old Japanese man admitted to our hospital for further examination of left forearm pain. Maintenance HD was started at age 24 years, and the man had been on HD since then. At age 38 years, surgical parathyroidectomy was performed for secondary hyperparathyroidism; iliac crest bone biopsy performed at the same time showed osteitis fibrosa. The active vitamin D3 preparation calcitriol was started, and intermittent cyclical etidronate therapy was introduced 2 years later for osteoporosis. At age 45 years, the patient stopped taking calcitriol because of hypercalcemia but continued with etidronate. At age 46 years, a pseudofracture with a Looser zone occurred in the left ulna, and left femur bone biopsy revealed osteomalacia. Etidronate was discontinued, and calcitriol was restarted; open reduction and internal fixation with an angular stability plate were performed. Union of the bone was achieved 10 months after the operation. At age 49 years, a lumber bone biopsy confirmed improved bone morphometry.ConclusionsWe believe that intermittent cyclical etidronate therapy without administration of active vitamin D3 during long-term HD might have induced osteomalacia, resulting in the ulna insufficiency fracture. Therefore, we propose that administration of active vitamin D3 is essential to prevent osteomalacia in patients on long-term HD who are receiving bisphosphonates and have potential vitamin D3 deficiency.

A Rare Case of Hypophosphataemic Osteomalacia in von Recklinghausen Neurofibromatosis.

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a one of the more common hereditary autosomal disorders. However, osteomalacia in neurofibromatosis type 1 is very rare tumour-induced osteomalacia; fibroblast growth factor-23 is usually implicated. We report the case of a patient with a history of von Recklinghausen neurofibromatosis who presented with hypophosphataemic osteomalacia. The patient was treated with high-dose calcitriol and oral phosphate with clinical improvement. Even though it is a rare entity, we must consider the diagnosis of hypophosphataemic osteomalacia in patients with neurofibromatosis in order to deliver appropriate treatment. Osteomalacia during von Recklinghausen disease is a rare presentation of an uncommon condition and has a poorly understood mechanism.The treatment of oncogenic osteomalacia includes tumour removal which, however, is not always possible.Administration of calcitriol alone is not sufficient and phosphorus intake is mandatory to improve symptoms.

Tumor Induced Osteomalacia in Patients With Metastatic Prostate Cancer: Case Report and Literature Review

Background:Tumor induced osteomalacia (TIO), driven by elevated levels of fibroblast growth factor (FGF23), has been associated with progressive aggressive prostate cancer. FGF23, expressed by osteocytes, plays an important role in tumorigenesis through cell proliferation, chemotaxis, and angiogenesis. FGF23 regulates phosphate homeostasis through feedback loops between the kidney and bone. We present a case report of a patient with TIO and advanced prostate cancer (PC) and review previously published data. Clinical Case: A 63-year old male with castrate-resistant PC with bone metastases presented with symptoms of profound fatigue, memory loss, and brain fog. Laboratory studies demonstrated severe hypophosphatemia (phosphorus 0.8 mg/dL, normal 2.5–4.5 mg/dL), mild hypocalcemia, secondary hyperparathyroidism, normal 25 hydroxy-vitamin D and 1,25-dihydroxy vitamin D. After treatment with IV and oral replacement, phosphorus improved to 2.2 mg/dL. Urinary phosphorous was elevated at 2105 mg/24 hours (normal 400–1300 mg/24 hours) and FGF23 545 RU/mL (normal < 180 RU/mL). His PC treatment regimen extended over 10 years with multiple systemic, radiation, and targeted ablation therapies. He was also on denosumab every 3 months for metastatic bone disease, but it was discontinued due to hypophosphatemia. He is now treated with calcium carbonate-vitamin D 1000 mg-250 IU twice daily, calcitriol 1.5 mcg/daily, Phospha Neutral 250mg 2 tablets four times daily, and abiraterone acetate. His hypophosphatemia, hypocalcemia and secondary hyperparathyroidism has resolved with this regimen. To our knowledge there are 17 cases of TIO in metastatic PC are reported to date. Majority of the patients have similar clinical presentation. Treatment of metastatic PC, as well as calcitriol, phosphorus replacement, octreotide, and cinacalcet were described. Conclusions: FGF23 plays an important role in metastatic prostate cancer progression. TIO is a rare entity in patients with metastatic PC, however mild cases are underdiagnosed due to its nonspecific symptoms and lack of routine screening. The FGF pathway represents a new target for prostate cancer treatment and clinical trials targeting FGF23 pathway in PC are needed for further drug development. Also, the efficacy of burosumab, a novel monoclonal antibody directed against human FGF23 in treatment of hypophosphatemia in metastatic PC requires further investigation.

Osteomalation under the mask of spondyloarthritis

Objective. To demonstrate the possibility of having a spondyloarthritic mask of osteomalacia in patients of both sexes.Materials and methods. Two clinical cases of osteomalacia occurring under the mask of spondyloarthritis in patients treated at the Clinical Rheumatology Hospital of Saint-Petersburg, Russia, as well as similar cases described in the literature, were analyzed.Results. In the cases described, patients were diagnosed with a disease from the group of spondyloarthritis based on a number of individual symptoms, such as pain in the lower back and stiffness, as well as instrumental examination data. At the same time, with in-depth evaluation, the pain in the lower back did not did not met to the inflammatory pain ASAS criteria, and there were also no signs of general laboratory activity of the disease. The conventional therapy for spondyloarthritis was ineffective. With the re-evaluation of clinical, laboratory and instrumental data, the diagnosis was changed to osteomalacia. Appointment of adequate therapy with vitamin D after a review of the diagnosis resulted in both a regression of clinical symptoms and an improvement in laboratory parameters.Conclusions. If the patient has pain in the lower back, especially without clear signs of inflammatory, no signs of general laboratory activity, further examination is necessary to clarify possible osteomalacia. Spondyloarthritis should be only diagnosed in cases with the secondary nature of symptoms excluded.

Is vitamin D deficiency a risk factor for osteonecrosis of the jaw in patients with cancer? A matched case–control study

PurposeA previous case–control histomorphometric study showed higher odds of osteomalacia in patients with bisphosphonate-related osteonecrosis of the jaw (BRONJ). Vitamin D deficiency causes osteomalacia and may therefore be involved in the pathogenesis of BRONJ. The present case–control study aimed at testing such hypothesis. Materials and methodsBRONJ+ and BRONJ− patients treated with bisphosphonates were matched by sex (same) and age (within 5 years). Serum 25-hydroxy-vitamin D (25-OH-D), parathyroid hormone, bone alkaline phosphatase, total procollagen type 1 amino-terminal propeptide, carboxy-terminal collagen crosslinks, Dickkopf WNT signaling pathway inhibitor 1 and sclerostin were measured. ResultsThe main outcome was vitamin D deficiency defined as 25-OH-D < 50 nmol/l. A total of 51 BRONJ+ and 73 BRONJ− patients were studied. The frequency (95% CI) of vitamin D deficiency was 59% (45%–72%) in BRONJ+ and 62% (48%–75%) in BRONJ− patients. This amounts to a difference of −3% (−22%–16%, p = 0.77) for BRONJ+ patients. Serum 25-hydroxy-vitamin D and parathyroid hormone were similar in BRONJ+ and BRONJ− patients. Among the bone metabolism markers, only sclerostin differed between the two groups, being higher in BRONJ+ patients. ConclusionThe present matched case–control study suggests that vitamin D deficiency is not a risk factor for BRONJ.

Total hip/knee arthroplasty in the treatment of tumor-induced osteomalacia patients: More than 1 year follow-up.

BackgroundTumor-induced osteomalacia (TIO) may result in a better prognosis after complete resection of the causative neoplasm. However, tumors located proximal to the articular surface of the metaphysis remain largely uninvestigated.MethodsA retrospective study of sixteen patients was undertaken to evaluate treatment of tumors with joint arthroplasty and tumor resection. The bone metabolism index, hip/knee joint function, arthroplasty complications and symptoms were followed up for at least 12 months in each patient.ResultsAll patients presented with neoplasms situated in the articular surface of the metaphysis, with 13 cases undergoing hip arthroplasty and 3 undergoing knee arthroplasty. Treatment of the tumors with joint arthroplasty and tumor resection significantly and rapidly ameliorate bone metabolism indexes in patients with TIO (p<0.01), with no identified tumor recurrence. The joint function evaluation score was improved in 15 patients (93.75%). Complications in these patients included post-operative pain, joint squeaking and secondary hyperparathyroidism.ConclusionsJoint arthroplasty that includes tumor-expanding resection appears to be a safe and appropriate method for the treatment of TIO patients with a neoplasm located in the metaphysis proximal to the articular surface.Level of evidenceTherapeutic Level III. See Instructions for Authors for a complete description of levels of evidence.

The analysis of missed diagnosis and misdiagnosis of 144 tumor-induced osteomalacia patients

The analysis of missed diagnosis and misdiagnosis of 144 tumor-induced osteomalacia patients

Updates on rickets and osteomalacia: surgical treatment for rickets/osteomalacia

In general, surgical treatments are indicated for severe extremity deformities due to impaired bone growth and fractures due to bone fragility in rickets/osteomalacia patients. Corrective osteotomy and fixation with external fixators, Kirshner's wires, intramedullary nail, plates and casting including epiphysiodesis is performed. For tumor induced osteomalacia patients, excision of causative tumor is indispensable as definitive therapy. In this article, surgical treatments were updated especially for tumor induced osteomalacia.

Effects of Multi-Deficiencies-Diet on Bone Parameters of Peripheral Bone in Ovariectomized Mature Rat

Many postmenopausal women have vitamin D and calcium deficiency. Therefore, vitamin D and calcium supplementation is recommended for all patients with osteopenia and osteoporosis. We used an experimental rat model to test the hypothesis that induction of osteoporosis is more efficiently achieved in peripheral bone through combining ovariectomy with a unique multi-deficiencies diet (vitamin D depletion and deficient calcium, vitamin K and phosphorus). 14-week-old Sprague-Dawley rats served as controls to examine the initial bone status. 11 rats were bilaterally ovariectomized (OVX) and fed with multi-deficiencies diet. Three months later the treated group and the Sham group (n = 8) were euthanized. Bone biomechanical competence of the diaphyseal bone was examined on both, tibia and femur. Image analysis was performed on tibia via µCT, and on femur via histological analysis. Lower torsional stiffness indicated inferior mechanical competence of the tibia in 3 month OVX+Diet. Proximal metaphyseal region of the tibia showed a diminished bone tissue portion to total tissue in the µCT despite the increased total area as evaluated in both µCT and histology. Cortical bone showed higher porosity and smaller cross sectional thickness of the tibial diaphysis in the OVX+Diet rats. A lower ALP positive area and elevated serum level of RANKL exhibited the unbalanced cellular interaction in bone remodeling in the OVX+Diet rat after 3 month of treatment. Interestingly, more adipose tissue area in bone marrow indicated an effect of bone loss similar to that observed in osteoporotic patients. Nonetheless, the presence of osteoid and elevated serum level of PTH, BGP and Opn suggest the development of osteomalacia rather than an osteoporosis. As the treatment and fracture management of both osteoporotic and osteomalacia patients are clinically overlapping, this study provides a preclinical animal model to be utilized in local supplementation of minerals, drugs and growth factors in future fracture healing studies.

Tumor-induced osteomalacia: An important cause of adult-onset hypophosphatemic osteomalacia in China: Report of 39 cases and review of the literature

Tumor-induced osteomalacia (TIO) is an acquired form of hypophosphatemia. Tumor resection leads to cure. We investigated the clinical characteristics of TIO, diagnostic methods, and course after tumor resection in Beijing, China, and compared them with 269 previous published reports of TIO. A total of 94 patients with adult-onset hypophosphatemic osteomalacia were seen over a 6-year period (January, 2004 to May, 2010) in Peking Union Medical College Hospital. After physical examination (PE), all patients underwent technetium-99m octreotide scintigraphy ((99) Tc(m) -OCT). Tumors were removed after localization. The results demonstrated that 46 of 94 hypophosphatemic osteomalacia patients had high uptake in (99) Tc(m) -OCT imaging. Forty of them underwent tumor resection with the TIO diagnosis established in 37 patients. In 2 patients, the tumor was discovered on PE but not by (99) Tc(m) -OCT. The gender distribution was equal (M/F = 19/20). Average age was 42 ± 14 years. In 35 patients (90%), the serum phosphorus concentration returned to normal in 5.5 ± 3.0 days after tumor resection. Most of the tumors (85%) were classified as phosphaturic mesenchymal tumor (PMT) or mixed connective tissue variant (PMTMCT). Recurrence of disease was suggested in 3 patients (9%). When combined with the 269 cases reported in the literature, the mean age and sex distribution were similar. The tumors were of bone (40%) and soft tissue (55%) origins, with 42% of the tumors being found in the lower extremities. In summary, TIO is an important cause of adult-onset hypophosphatemia in China. (99) Tc(m) -OCT imaging successfully localized the tumor in the overwhelming majority of patients. Successful removal of tumors leads to cure in most cases, but recurrence should be sought by long-term follow-up.

Simultaneous bilateral femoral neck stress fractures in a young military cadet: a rare case report.

Simultaneous bilateral femoral neck stress fracture in healthy young adult is one of the very rare clinical entities that an orthopedic surgeon may encounter once in lifetime. Bilateral femoral neck stress fractures have been very well documented in elderly and osteomalacia patients; however, its simultaneous occurrence in a healthy adult is challenging to diagnose and manage. This article describes a 34-year-old man a military personnel who sustained bilateral stress femoral neck fractures, during a routine training activity. The patient was come to our institution, and a full endocrine evaluation was performed and proved unremarkable. He underwent closed reduction and internal fixation of the fractures using cannulated screws on both the sides. At 1-year follow-up, the fractures went on to complete union. Despite strict non-weight-bearing instructions for initial 3-month period, patient bore weight on the limbs resulting in varus union on the left side. Our case emphasizes the significance of obtaining a complete and thorough medical history on physical examination and appropriately counseling patients regarding activity level even after successful fixation.

Hypophosphataemic Osteomalacia in Patients on Adefovir Dipivoxil

Fanconi syndrome results from generalised renal tubular toxicity and, owing to phosphate wasting can cause hypophosphataemic osteomalacia. Large clinical trials advocated the safety of adefovir dipivoxil at a daily dose of 10 mg, the standard dose given to patients with hepatitis B. We diagnosed Fanconi syndrome in conjunction with severe osteomalacia in 2 hepatitis B-positive patients on standard-dose adefovir therapy. The first patient was a 40-year-old male with a 5 month history of bone pain involving his knees, ankles, and ribs. He had been receiving adefovir dipivoxil for 27 months before the development of hypophosphataemia, urinary phosphate wasting, and aminoaciduria. These abnormalities resolved within weeks of discontinuation of adefovir dipivoxil and supplementation with elemental phosphate, calcium carbonate, and cholecalciferol. The second patient was a 53-year-old female with a 6 month history of lethargy, cachexia, and generalized bone pain. She had been receiving adefovir for 64 months before the development of these symptoms. She had hypophosphataemia, hypocalcaemia, metabolic acidosis, and severe vitamin D deficiency, but initially no urinary phosphate wasting. Four months of high-dose cholecalciferol supplementation unmasked her Fanconi syndrome including significant urinary phosphate wasting. The patient improved within weeks of discontinuation of adefovir and supplementation with elemental phosphate, calcium carbonate, and calcitriol. Despite large clinical trials advocating the safety of adefovir dipivoxil at 10-mg daily, long-term use of this agent may be nephrotoxic and in rare cases, cause Fanconi syndrome and severe hypophosphataemic osteomalacia. Clinicians prescribing this drug should be aware of this potential complication.

Osteomalacia with Bone Marrow Fibrosis Due to Severe Vitamin D Deficiency After a Gastrointestinal Bypass Operation for Severe Obesity

To present 5 cases of bone biopsy-proven osteomalacia with marrow fibrosis (in 3 cases) after gastric bypass operation, review the relevant literature, and offer preventive strategies. We summarize the clinical presentation, pertinent biochemical and radiologic data, and bone histomorphometric findings in 5 patients, encountered during a period of 17 years, in whom severe vitamin D deficiency developed after a gastrointestinal bypass surgical procedure for morbid obesity. Five patients (39 to 60 years of age) were seen for evaluation of metabolic bone disease not responding to "usual" therapy after a gastric bypass surgical procedure. All had generalized bone pain and tenderness, muscle weakness, stooping posture, difficulty walking, and waddling gait due to severe proximal muscle weakness for a period of 2 to 5 years. Diagnoses before the referral varied from arthritis and gout to vitamin D deficiency and osteoporosis despite highly suggestive biochemical or radiologic findings (or both) of osteomalacia in each patient, which was confirmed by bone biopsy. After therapy with pharmacologic doses of ergocalciferol (100,000 IU daily) and calcium carbonate (1 to 2.5 g daily), considerable improvements occurred in clinical symptoms and functional status, biochemical indices, bone mineral density, and bone histomorphometric features. Gastric bypass operations predispose patients to severe vitamin D deficiency and osteomalacia in the absence of pharmacologic doses of vitamin D therapy. In general, the current recommendations are grossly inadequate in this high-risk population, and the clinical presentation is both nonspecific and often misleading. Prospective long-term studies are needed to determine the appropriate vitamin D dose required to prevent osteomalacia in such patients.

Imaging manifestations and its clinical significance in patients with oncogenic osteomalacia

目的 探讨不同影像方法在瘤源性骨质软化病变的影像学表现.方法8例瘤源性骨质软化患者年龄28～69岁,平均44.1岁,其中男5例,女3例.所有患者的骨质软化诊断依据临床检查和X线表现.主要实验室检查包括血清钙、磷、碱性磷酸酶活性、甲状旁腺激素、尿磷和肝肾功能.根据临床寻找瘤源性骨质软化病变的需求,所有患者均先行99mTC-生长抑素核素扫描检查.MR检查8例,螺旋CT检查4例,对MR、CT发现的4例骨内病变又进一步行常规X线检查4例.所有局部病变均行手术切除并得取病理诊断.结果所有患者实验室检查均示血磷降低(0.29～0.65 mmol·L-1),碱性磷酸酶(36.6～310.6μmol·s-1·L-1)和尿磷增高(11.5～40.9 mmol·L-1),但甲状旁腺水平和肝、肾功能均正常.术后病理结果为:软组织肿瘤4例(血管瘤、腱鞘巨细胞瘤、血管外皮细胞瘤和间叶细胞瘤各1例);骨肿瘤4例(恶性神经纤维瘤1例,间叶细胞瘤2例和纤维母细胞瘤1例).所有病变区的奥曲肽显像均示异常浓聚,但不足以区分病变是源于骨还是软组织,而MR影像可进行这种区分.所有病变的T1WI示低或等强度信号,T2WI示高强度信号;病变的边界均清晰;信号强度不均匀者6例,均匀者2例;4例病理证实的骨肿瘤中有2例CT和X线显示恶性的骨质破坏征象,如边界不清等.结论对年长、血钙和甲旁状腺激素正常且低血磷的骨质软化,应首选奥曲肽显像检查用以寻找瘤源性骨质软化病变,进一步结合MR、CT或X线所见有助于病变性质的分析。

The development of hypophosphataemic osteomalacia with myopathy in two patients with HIV infection receiving tenofovir therapy

We report two cases in which osteomalacia developed in patients on tenofovir-containing highly active antiretroviral therapy (HAART) in the context of Fanconi syndrome with hypophosphataemia. Bone pain was the presenting feature and myopathy followed in one case. Disability was reversed with withdrawal of the drug and with mineral supplementation. The cases highlight the importance of considering the diagnosis of osteomalacia in patients treated with tenofovir. A possible association with incipient acute renal failure, particularly during nonsteroidal anti-inflammatory drug (NSAID) use, needs further investigation.