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31.
《Journal of Clinical Orthopaedics and Trauma》2020,11(2):298-301
Alagille Syndrome is a rare autosomal dominant genetic disorder, occur only 1:70,000 in population, and characterized by reduced interlobular bile ducts, and resultant nutritional deficiencies associated with the inability to absorb fat-soluble vitamins such as vitamin D. Patients are at risk for secondary osteoporosis, rickets/osteomalacia, and ultimately may result in fracture. The majority of patients suffer from chronic cholestasis, which can have a variety of adverse effects on bone metabolism. Hypothyroidism has been described in some Alagille Syndrome patients, and eventually delayed puberty can occur. Two until fourteen percents of patients of Alagille syndrome will suffer from fractures, in which it primarily occurs in the lower limb long bones in the absence of significant trauma. This study aimed to present a rare case of pathological fracture of femur in Alagille syndrome patient and its management in our hospital.Six-year-old male with pain on his right thigh came to our ER after fell down while putting on his pants. He had been diagnosed with biliary atresia at the age of 3 months and underwent surgical bile duct reconstruction. In addition, he also suffered from congenital hypothyroidism and consequently, stunted growth. The pathological fracture of the femur was treated conservatively with hemispica cast. At 2 months follow up, there is already radiographic evidence of fracture healing occurred by secondary intention and callus formation.By ensuring adequate calcium and vitamin D intake, monitoring for vitamin D deficiency, monitoring for fragility fractures, and avoiding trauma-related accidents, a proper conservative treatment using hemispica cast could still always be considered for managing such diaphyseal fractures in Alagille syndrome, especially in relatively low-resource countries such as Indonesia. 相似文献
32.
Insufficiency fractures are a type of stress fractures that occur due to physiological stress on weakened bones. These have certain sites of predilection of which an uncommon site is fibular shaft. Isolated bilateral fibular fractures have previously only been reported twice, where the causes were repeated trauma and fatigue fracture. Insufficiency fractures of both fibula in isolation have not previously been reported. We present this case where a young patient presented with these fractures and was found to have vitamin D deficiency on subsequent investigations. 相似文献
33.
34.
《Journal of Clinical Orthopaedics and Trauma》2019,10(4):768-773
BackgroundInadequate serum vitamin D levels are associated with secondary hyperparathyroidism, increased bone turnover, bone loss and increased fracture risk. Vitamin D is well recognized to be suboptimal in older patients when compared to age-matched controls. There are no published studies on the prevalence of hypovitaminosis D in Indian population with fragility fractures around the hip associated with osteoporosis and comminution at the fracture site.AimTo investigate the prevalence of hypovitaminosis D in patients admitted with osteoporotic hip fractures and associated fracture site comminution in a South Indian Institute.Material & MethodsA prospective cross sectional study was conducted on 100 patients admitted with osteoporotic hip fracture. Measurement of serum 25-hydroxy vitamin D was done and the same was correlated with the degree of osteoporosis using Singh’s index and fracture site comminution.ResultsOut of 100 patients studied, 92% had hypovitaminosis D with mean vitamin D level of 16.08 ± 5.95 ng/dl (65% vitamin D deficiency with mean 13.16 ± 4.24 ng/dl and 27% vitamin D insufficiency with mean 23.11 ± 2.62 ng/dl) and 94% had osteoporosis with Singh’s index grade 3 or less. Out of the 36 patients with fracture site comminution 34 patients (94%) had hypovitaminosis D and 33 patients (91.6%) had osteoporosis. Statistical significance was established for all the variables.ConclusionSignificant association was found between hypovitaminosis D, osteoporosis and fracture site comminution. High prevalence of hypovitaminosis D in patients presenting with hip fractures and fracture site comminution implicates the necessity for proper evaluation and effective supplementation of vitamin D in elderly patients along with anti-osteoporotic regimens for effective prevention and appropriate management of osteoporotic hip fractures. 相似文献
35.
李伟王红李全志陈佳黄彦弘左庆瑶杨洁邓微 《中国药师》2017,(5):872-875
摘 要 目的:对阿德福韦酯(ADV)致低血磷性骨软化症病例进行临床分析,提高对此病的认识。方法: 回顾性分析11例ADV致低血磷性骨软化症病例的病史资料及生化检查(转氨酶、白蛋白、肌酐、尿酸、血糖、血pH、BE)、骨代谢标志物检查(25OHD3、PTH、tP1NP、β-CTX、OC)、尿液检查(尿pH、24 h尿钙、24 h尿磷、24 h尿蛋白、尿肌酐)、X线双能骨密度值、骨扫描结果。并分别于停用ADV 1个月和2016年7月对11例患者症状、血磷及AKP水平、尿常规进行复查随访。结果: 11例患者服用ADV时间(5.7±1.2)年,骨痛时间(2.2±0.6)年,血磷水平(0.45±0.099)mmol·K-1,24h尿磷水平(17.9±4.8)mmol,AKP(248±107)U·K-1,肾磷酸根阈值(0.31±0.10)mmol·K-1。停用ADV1个月后随访:患者骨痛缓解,在补磷情况下血磷上升。2016年7月随访:平均停用ADV(18.3±10.7)月;相较于入院时及停药1个月时血磷显著升高、AKP显著降低(P均<0.05);2例血磷恢复正常,血磷恢复率为20%(2/10)。回归分析显示:影响入院时血磷的因素是肾磷酸根阈值和tP1NP(P<0.05);影响最后随访时血磷的因素是入院时的骨密度值(P<0.05)。结论:低血磷性骨软化症是用ADV潜在不良反应,所致肾损害并不完全可逆,在临床工作中应引起重视。 相似文献
36.
铝对大鼠骨基质明胶诱导性异位骨形成及矿化影响的研究 总被引:1,自引:0,他引:1
采用不脱钙骨切片技术,配合四环素双标记和骨组织形态计量学及铝染色,研究了不同的铝浓度在肾功能正常与肾功能不全时对诱导性异位骨形成及矿化的影响.实验大鼠分为5组:对照组(C);低剂量铝组(LDA);高剂量铝组(HDA);慢性肾功能不全组(CRF);慢性肾功能不全加高剂量铝组(CRF-HDA);实验结果表明:LDA、CRF组与C组之间无明显差异(P>0.05).HDA及CRF-HDA组骨组织内四环素荧光双记线短、少,多为单标线,且粗细不一,增宽融合,表面有较多的类骨质沉积,尤以CRF-HDA组为甚.提示高剂量铝可影响大鼠骨基质明胶诱导性异位骨形成,阻碍其矿化作用,引起骨软化.尤其在慢性肾功能不全时,可加重此变化. 相似文献
37.
T. Chazal V. Khanine O. Lidove S. Godot J.-M. Ziza 《La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne》2017,38(6):412-415
Introduction
Osteomalacia is associated with diffuse pain and multiple fractures and therefore, diagnosis and treatment of this condition are necessary. Clinicians should be aware of an uncommon mechanism of osteomalacia where hypophosphataemia is secondary to renal phosphaturia because of the production by a mesenchymal phosphaturic tumor of FGF-23. This tumor should be localized and removed to cure this tumor-induced osteomalacia.Observation
A 70-year-old female patient was admitted to explore diffuse pain caused by multiple fractures secondary to osteomalacia. Despite vitamin D supplementation, she remained profoundly hypophosphoremic with major renal phosphaturia. A tumor-induced mechanism was suspected because of high level of FGF-23. It took more than three years of investigation to spot the causal phosphaturic mesenchymal tumor despite annual repetition of indium-labelled scintigraphy and PET-scan. The resection of the tumor, located between two phalanges of the right foot, cured the patient with sustained normal rate of serum level of phosphorus after two years.Conclusion
Tumor-induced osteomalacia is a diagnostic challenge because the localization of the tumor may be a long process. Patients should be monitored clinically and imaging studies repeated until a diagnosis is made and the causal tumor removed. 相似文献38.
Tumour induced osteomalacia (TIO) is a rare and often unrecognized cause of hypophosphatemia. We report on a case of TIO due to a hemangiopericytoma originating from the left nasal sinus. The patient was a 55-year-old male with a 3-year history of left hip pain and an undisplaced left hip fracture. Biochemical testing demonstrated low levels of serum phosphate and serum 1,25-dihydroxyvitamin D, and an elevated level of fibroblast growth factor 23. Octreotide scanning demonstrated uptake in the left nasal sinus area and a computed tomography scan revealed a left nasal sinus mass. The patient underwent surgical resection of the mass and histology was consistent with a sinonasal hemangiopericytoma. His serum phosphate levels normalized almost immediately after surgery and he had complete resolution of hip pain. Our case highlights the importance of considering TIO when assessing patients with low serum phosphate. 相似文献
39.
Murali Sundaram 《Skeletal radiology》2009,38(9):841-853
Objective To provide an update on imaging of metabolic bone disease based on new developments, findings, and changing practices over
the past 30 years.
Materials and methods Literature review of osteoporosis, osteomalacia, renal osteodystrophy, Paget’s disease, bisphosphonates, with an emphasis
on imaging.
Results Cited references and pertinent findings.
Conclusions Significant developments have occurred in the imaging of metabolic bone disease over the past 30 years.
The Founders Medal of the International Skeletal Society (ISS) was awarded to professors Judith E. Adams, MD, Manchester University,
UK and Michael Pitt, MD, University of Birmingham, USA at the ISS annual meeting in Budapest, Hungary in 2007. The recipients
were being honored for contributions made to the ISS and in advancing the field of musculoskeletal science particularly in
the field of metabolic bone disease. The review that follows is largely based on the lecture, of the same title given in honor
of the 2007 Founders medal recipients. The International Skeletal Society was founded 35 years ago. 相似文献
40.
Calcium (Ca) metabolism, with particular reference to serum vitamin D metabolites, was investigated in 40 women with femoral neck fracture (mean age 77.1 ± 8.6 yr). All the patients were ambulant before the fracture; eight were long-term geriatric in-patients.
Serum total and ionised calcium and serum albumin levels were significantly lower, and serum parathormone (PTH) levels significantly higher in fracture patients than in controls.
Both serum 25-OH-D and 1,25-(OH)2D were significantly lower in fracture patients than in controls. We concluded that vitamin D, serum PTH and calcium levels should be checked with greater frequency in patients at high risk for osteoporosis and osteomalacia before they reach the age of 70. 相似文献