髌骨软化症的MRI研究

目的：总结髌骨软化症（ＣＭＰ）的ＭＲＩ表现，研究ＭＲＩ对ＣＭＰ的诊断作用。材料与方法：对９７例拟诊ＣＭＰ膝关节的ＭＲＩ表现和关节镜检查所见进行对照研究。结果：ＣＭＰ的ＭＲＩ表现为：（１）髌软骨内尖刺状或斑片状低信号；（２）软骨局部隆起，其内信号强度减低；（３）软骨表面不光滑；（４）软骨变薄；（５）软骨缺损、骨质暴露。以关节镜为标准ＭＲＩ诊断ＣＭＰ的敏感性为９０．７％，特异性为７８．６％，准确性为８５．６％。结论：ＭＲＩ能显示ＣＭＰ的病理变化；在病变晚期，与关节镜的诊断符合性好；在病变早期，ＭＲＩ在诊断上有一定优势     

手法治疗髌骨软骨软化症21例

髌骨软骨软化症是常见的膝关节慢性劳损性疾病。笔者采用手法治疗,颇多效验。一、一般资料本组21例,男6例,女15例。39岁以下2例,40～49岁9例,50～59     

家族性低血磷性骨软化症一例

低血磷性骨软化症有X性连锁显性遗传性低血磷性骨软化症(X-link,hypophosphatemia,XLH)、常染色体显性遗传低血磷性骨软化症(autosomal dominant hypophosphatemia osteomalacia,ADHO)、肿瘤相关性低血磷性骨软化症(tumor induced osteomalacia,TIO)3种病因[1].笔者在重庆医科大学附属第一医院进修期间收治1例XLH,报道如下.     

骨-骨膜原位翻转修复髌软骨软化症的中长期疗效

 目的 探讨骨-骨膜原位翻转修复治疗髌骨软化症的软骨缺损方法, 观察其中长期疗效。 方法 1996年 4月至 2000年 6月, 拟在我: 手术治疗的 21例髌软骨软化症患者经术前和术中评估, 接受骨-骨膜原位翻转术治疗 13例。男 3例, 女 10例;年龄 47~65岁, 平均 59岁。采用 HSS和 Lysholm 膝关节功能评分标准进行评分。结果 术后随访 114~162个月(平均 133.2个月), 13例患者中 1例患 者死亡, 余12例获随访。按照 HSS膝关节功能评分标准: 术前 20~58(34.2±3.8)分, 术后 1年为 55~70 (60.0±7.0)分, 术后 3年 55~82(64.1±5.9)分, 术后 5年 60~90(70.1±3.2)分, 术后 7年 50~85(63.1±4.1) 分, 术后 9年 50~75(57.3±2.9)分。 Lysholm膝关节功能评分: 术前 34~48(37.2±1.5)分, 术后 1年为 45~ 65 (54.0±5.5)分, 术后 3年 55~70(60.1±3.7)分, 术后 5年 55~80(67.1±2.4)分, 术后 7年 55~70(62.5± 1.8)分, 术后 9年 50~70(58.5±3.1)分。两种评分术前与术后各随访时间点差异均有统计学意义(HSS评分: F=32.816, P=0.000;Lysholm评分: F=41.793, P=0.000)。骨-骨膜移植组织与缺损周围组织完全愈合, 功能恢复良好。 1例患者因膝内翻畸形于术后 13年行人工膝关节置换术, 术中见髌骨软骨表面光滑, 白色且质韧, 修复区域与周围软骨无界限。结论 原位翻转的骨-骨膜具有成软骨能力, 修复手术后髌骨 关节面恢复良好, 疗效满意。此原位翻转术仅可以修复髌骨关节软骨, 对膝关节畸形不具有矫形作用。     

肾癌所致骨软化症一例报告及文献复习

目的 探讨肿瘤源性低磷骨软化症(OO)的临床表现、病理特点、治疗及预后.方法 OO患者1例,男,17岁.双下肢无力、肌肉萎缩、关节疼痛4年.实验室检查提示低血磷,X线检查示诸腰椎不同程度楔形变,骨盆骨质密度减低.B超检查见左肾正常形态消失,上极可见部分肾结构,中下极被巨大混合结构取代,大小约15.1 cm×14.5 cm×13.2 cm,与胰尾分界欠清,内部回声不均,血流丰富,可见多支血管穿行其内.CT检查见左肾巨大肿瘤,直径15.0 cm,增强后中度强化;瘤体内见多发回流静脉血管影,左肾动脉、左副肾动脉及肠系膜下动脉的分支参与肿瘤供血;肿瘤下方迂曲静脉血管团回流入左肾静脉.奥曲肽显像检查见左肾中下极水平巨大异常放射性浓聚区,考虑为生长抑素受体高表达之病变.诊断为左肾恶性肿瘤伴骨软化症.行经腹左肾根治性切除术,术中见左肾中下极巨大类圆形肿瘤,直径约15.0 cm,表面包绕大量怒张的静脉.手术顺利. 结果术后7 d血磷恢复正常,下肢肌力较前改善.病理报告为肾透明细胞癌,波形蛋白(+),肾细胞癌抗体(+),Ki-67约2%.随诊11个月,骨软化症状逐渐消失,肿瘤无复发及转移. 结论 OO罕见,尤其是肾癌所致OO,目前尚未见报道.对临床表现为乏力、下肢活动障碍、骨痛、低磷血症的患者,应考虑OO的可能,并积极寻找肿瘤病灶.一旦确诊,手术切除是主要治疗手段,预后较好.

Abstract：

Objective To investigate the clinical manifestations, pathologic features, treatment and prognosis of oncogenic osteomalacia (OO). Methods A 17-year-old male patient was admitted.The patient presented with a 4-year history of progressive lower limb weakness, muscle atrophy and joint pain. Lab tests demonstrated hypophosphatemia. Lumbar and pelvic X-ray showed wedging of the lumbar spine and decreased pelvic bone density. Ultrasonography revealed a low-echo and bloodrich mass measuring 15.1 cm× 14.5 cm× 13.2 cm located at the lower pole of left kidney. Computed tomography showed a voluminous enhanced tumor, supplied by the left renal artery, vice renal artery and a branch of the inferior mesenteric artery. A tortuous vein at the lower part of the tumor drained into the left renal vein. A radioactive octreotide scan was used to study an increased radionuclide-uptake lesion which was initially suspected on the CT scan. The patient was preoperatively diagnosed with left malignant kidney tumor and oncogenic osteomalacia. During a left radical nephrectomy performed through a transperitoneal anterior subcostal incision, a round diameter 15 cm tumor covered by twisted veins was found. The patient recovered well postoperatively. Results The histological diagnosis was renal clear cell carcinoma. Immunohistochemical staining detected Vimentin and RCC were positive and Ki-67antigen index was about 2 %. After lesion removal, the paraneoplastic syndrome resolved. At the 11-month follow-up, no recurrence of the disease was observed. Conclusions Oncogenic osteomalacia is rare and OO with renal cell carcinoma has not been reported so far. OO or rickets should be suspected in those patients who presented with metabolic bone disease associated with hypophosphatemia and inappropriate phosphaturia. If OO syndrome was suspected, in addition to past medical history and imaging, a standard meticulous examination should be initiated promptly. Surgical treatment is still necessary once confirmed. And all of them achieved a good prognosis.     

马士敦与北京协和医学院妇产科的早期骨软化症研究

马士敦（J．Preston Maxwell,1871-1961）：英国人。其父马雅各（J．Laidlaw Maxwell）为英国长老会传教士,长期在台湾行医兼传教。马士敦为其长子,出生于伯明翰,年轻时在University College London（伦敦大学学院）就读,后于St Bartholomew’s Hospital（圣巴塞洛缪医院）接受临床训练并获得金质奖章。     

阿德福韦酯致低血磷性骨软化症二例报告并文献复习

目的加强对阿德福韦酯致低血磷性骨软化症的认识,减少误诊误治。方法对我院收治的采用阿德福韦酯治疗乙型病毒性肝炎(乙肝)致低血磷性骨软化症2例的临床资料进行回顾性分析并复习文献。结果本文2例均有长期乙肝病史,分别口服阿德福韦酯6年和5年,后出现骨关节疼痛症状,查血肌酐轻度升高,血磷降低,经相关检查排除类风湿关节炎、强直性脊柱炎、结缔组织病、恶性肿瘤、甲状旁腺功能亢进症等,符合阿德福韦酯所致肾小管损害引起的低血磷性骨软化症,停用阿德福韦酯并予补磷等治疗后病情改善。结论提高对阿德福韦酯所致低血磷性骨软化症的认识,是减少或避免误诊的关键。     

贵州省水城县地方性氟中毒病区骨软化畸形儿童铝氟及其他微量元素水平检测分析

目的 对贵州省水城县勺米乡与纸厂乡结合部地方性氟中毒(简称地氟病)村聚集性骨软化畸形儿童进行氟(F)、铝(Al)等多种元素测定,结合临床表现进行病因学诊断.方法 2008年11月,对水城县纸厂乡与勺米乡结合部地氟病村寨骨软化畸形少年儿童聚集病例(病例组),在严格质量控制基础上,采集14个病例和同县非地氟病区13个同龄对照(对照组)的任意1次尿和枕部贴皮头发,进行氟(F)、铝(Al)、镉(Cr)、锰(Mn)、铁(Fe)、铜(Cu)、锌(Zn)、砷(As)、硒(Se)、锶(Sr)、钡(Ba)10种元素检测,数据用PEMS 3.1医学软件统计包进行处理.结果 病例组尿中F、Al、Mn、Cu、Sr、Se水平(1.18 mg/L,112.6 μg/L,6.62、29.86 mg/L,177.5、4.23ng/L)与对照组(0.48、47.1、2.04、16.61 mg/L,55.17、15.52 ng/L)比较,差异均有统计学意义(t值分别为4.592、2.486、4.850、2.210、2.078、2.912,P均＜0.05).病例组头发中Al、Mn、As、Sr、Ba、Fe、Se水平(59.27、5.26、0.956、1.497、1.287、297.13、0.454 mg/kg)与对照组(18.69、0.72、1.094、0.621、0.675、69.022、1.323 mg/kg)比较,差异有统计学意义(t值分别为4.583、6.318、3.309、2.704、5.606、6.294,P均＜0.05).病例组尿中F与Al、Zn、As、Se的相关系数(r)均＞0.662(P均＜0.05),Al与Cu、Zn、As、Sr、Ba、Se的r均＞0.674(P均＜0.05),Se与Mn、Ba、Cu、Zn、Sr、As的r均＞0.694(P均＜0.05),Mn、Sr、As、Ba彼此之间r均＞0.550(P均＜0.05).病例组头发中Al与Mn、Cr、Fe、Cu、As、Se的r均＞0.732(P均＜0.05),Ba与Mn、Cr、Fe、Sr,Mn与Cr、Fe,Cr与As,Cu与Sr的r均＞0.686(P均＜0.05);对照组尿Cu与Zn、Se、Ba,Zn与Se、Ba,Cr与Mn、Ba的r均＞0.516(P均＜0.05);对照组头发中Al与Mn、Fe、Cu、As、Se,Se与Fe、Cu、As,Fe与Mn、Cu、As,Cu与Zn、As,Zn与As的r均＞0.739(P均＜0.05).病例组尿F与Se的r(0.762)与对照组(-0.469)比较,差异有统计学意义(u=2.079,P＜0.05).结论 水城县纸厂乡与勺米乡结合部地氟病病村寨骨软化畸形儿童的氟、铝负荷过高,尿和头发多种元素水平及其相关性分析与地方性铝氟中毒Al、F水平引起多种元素水平变化及其相关性呈网络样加强的现象一致,结合病人生活环境,有与铝氟中毒相同的骨X线表现,可诊断为地方性铝氟中毒.病人尿和头发Se水平降低及与F、Al等相关性有显著差异的生物学意义有待进一步探讨.

Abstract：

Objective To investigate the levels of trace elements such as fluorine(F), and aluminium (Al)etc. of osteomalacia malformation children and to make etiological diagnosis in reference with clinical manifestations.Methods Urine and occipitalia hairs of 14 diseased children(patient group) from endemic fluorosis area and 13 healthy children(control group) from non-endemic area were included in the study on November, 2008, and contents of 10 elements of fluorine(F), aluminum(Al), chromium(Cr), manganese(Mn), ferrum(Fe), cuprum(Cu), zinc(Zn), arsenic (As), selenium(Se), strontium(Sr), and barium(Ba) were tested. The data were analyzed with medical soft package PEMS 3.1. Results Urinary contents of F, Al, Mn, Cu, Sr, and Se(1.18 mg/L, 112.6 μg/L,6.62,29.86 mg/L, 177.5,4.23 ng/L) in patient group were significantly different from those in control group (0.48,47.1,2.04,16.61 mg/L, 55.17,15.52 ng/L, t = 4.592,2.486,4.850,2.210 2.078,2.912, all P＜ 0.05); Hair contents of Al, Mn, As, Sr, Ba, Fe, and Se in patient group(59.27,5.26,0.96,1.50,1.29,297.13,0.45 mg/kg)were significantly different from those of control group( 18.69,0.72,1.09,0.62,0.68,69.02,1.323 mg/kg, t = 4.583,6.318,3.309,2.704,5.606,6.294, all P ＜ 0.05); in patient group, the correlation coefficients of urinary Fe to Al,Zn, As, and Se were all bigger tan 0.662(all P＜ 0.05), those of urinary Se to Mn, Ba, Cu, Zn, Sr, and As were all bigger than 0.694(all P＜ 0.05), those among urinary Mn, Sr, As, and Ba were bigger than 0.550(all P＜0.05), those of hair Al to Mn, Cr, Fe, and Cu were bigger than 0.732(all P＜ 0.05), those of hair Ba to Mn,Cr, Fe, and Sr, and of hair Mn to Cr and Fe, and those between Cr and As, between Cu and Sr were all bigger than 0.686 (all P ＜ 0.05). In control group, the correlation coefficients of urinary Cu to Zn, Se, and Ba, those of Zn to Se and Ba, and those of Cr to Mn and Ba were all bigger than 0.516(all P ＜ 0.05), those of hair Al to Mn,Fe, Cu, As, and Se, and those of hair Se to Fe, Cu, and As, those of hair Fe to Mn, Cu, and As, those of hair Cu to Zn and As, and that between Zn and As were bigger than 0.739(all P ＜ 0.05). The correlation coefficient of urinary F to Se in patient group(0.762) was significantly different from that in control group( - 0.469, u = 2.079,P ＜ 0.05). Conclusions The burden of F and Al of osteomalacia malformation children in endemic fluorosis area of Shuicheng county is too high. The contents of multi-elements in urine and hairs and their correlation are coincident with high levels of Al and F and they cause network increase of multi-element content changes and their correlation. According to bone X-ray features combining with the living environment, the diagnosis of endemic Al-F fluorosis can be made. The biological significance of reducing urinary and hair Se levels and the correlations of F and Al need to be further studied.     

阿德福韦酯引起肾小管损害和骨软化临床研究进展北大核心CSCD

一、低磷性骨软化症的分类和概述 骨软化症属于矿化障碍疾病,由于骨骼基质不能正常矿化,导致假性骨折、骨折和骨骼畸形等。低磷性骨软化症是较常见的临床类型,其特点是肾脏排磷过多,血磷下降,致使骨骼无法正常矿化。导致低磷性骨软化症的病因较多,可分为遗传性、肿瘤性和获得性[1]。目前已阐明遗传性或肿瘤性低磷骨软化症,有共同的成纤维生长因子23(FGF23)依赖通路异常,即FGF23降解减少或FGF23分泌过多,致血FGF23水平过高,抑制1-阿尔法羟化酶和钠磷共转运蛋白的活性,从而尿磷排出过多,呈现低磷血症和骨软化。     

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