结节性硬化症家系的临床特点和基因突变分析

目的:探讨结节性硬化症(TSC)家系的临床特点和基因突变情况,为TSC临床诊断提供依据。方法:回顾性分析2014年1月至2019年12月北京协和医院确诊的10个TSC家系先证者及其成员的病例资料,进行详细的病史采集和查体。共26例患者,男12例,女14例,男女比例1∶1.17。年龄7～65岁。皮肤病变方面,面部血管纤维...     

肾结核的影像学诊断分析及临床应用(附105例报告)

近年来由于不典型肾结核的比例显著增加 ,使诊断更加困难 ,因误诊而延误治疗的肾结核患者时有发生。我院 1 985～ 2 0 0 0年共收治肾结核患者 1 0 5例 ,现对其影像学资料进行回顾性分析 ,旨在探讨影像学方法对肾结核诊断和治疗的指导意义。1　资料与方法1 .1 　 临床资料本组 1 0 5例 ,男 39例 ,女 66例 ,年龄 1 7～ 70岁 ,平均 43.2岁 ,其中 30～ 40岁占 5 0 %。病程 6～1 2 0个月 ,平均 2 3个月。临床常见症状 :尿频、尿急、尿痛 81例 ( 78.2 % ) ,血尿 70例 ( 66.8% ) ,腰痛、发热、盗汗等 1 0例 ( 9.5 % )。晚期可有消瘦及尿毒症。1 .2…     

小肾癌的影像学诊断(附43例报告)

目的 评价影像学检查在小肾癌诊断中的应用价值。方法 回顾性分析43例经手术及病理证实为小肾癌（直径≤3cm）患者的B超、IVU、CT、MRI等影像学资料。结果 43例小肾癌中，B超诊断恶性肿瘤28例，诊断准确率65．1％。29例行IVU，7例有间接征象（24．1％）。CT诊断恶性肿瘤42例，诊断准确率97．7％。14例MRI检查诊断恶性肿瘤13例，诊断准确率92．9％。结论 影像学检查中CT及CT增强扫描对小肾癌的定性、定位诊断有重要价值。     

肝细胞性结节性良性占位病变的诊断与治疗(附14例报告)

肝细胞性结节性良性占位病变是肝细胞源性良性病变，随着影像学的发展，在肝脏结节性占位病变定位诊断是很容易的，但定性诊断则成为影像和临床上主要难题，尤其是常与肝脏恶性肿瘤混淆。所以近年来受到了临床医师的重视。本文总结了我科肝细胞性结节性良性占位病变14例病人，报告如下。     

伴结节性硬化症的双肾多发性血管平滑肌脂肪瘤(附四例报告)

目的 探讨伴结节性硬化症的肾血管平滑肌脂肪瘤(AML)的临床诊治特点。方法 报告4例结节性硬化症伴多发性双肾AML的临床诊治资料。男女各2例。年龄17～44岁。l例表现为典型“三联征”，3例有典型面部皮疹，2例有癫痫发作史，3例伴肝、脾、骨等多发肾外病灶，3例颅脑CT检查均发现典型的大脑钙化结节灶。结果 3例患者经CT检查确诊，l例CT检查未发现肿瘤内特异性脂肪密度组织，B超引导下穿刺活检确诊，因右肾肿瘤巨大行肾切除术。l例患者因肿瘤小且症状轻微行保守治疗，另2例肿瘤伴出血者经保守治疗症状好转，随访6～36个月，肿瘤大小无变化，无症状复发。结论 伴结节性硬化症的双肾占位即使CT检查未发现特异性脂肪密度也不能排除AML的可能，细针穿刺活检能够确诊并排除肾癌。治疗方案应根据双侧肾肿瘤大小、分布、发展情况及症状决定。     

创伤性多器官衰竭临床诊断及防治--附26例临床报告

目的　探讨创伤引起多器官衰竭（ＭＯＦ） 的诊断和防治。方法　回顾分析了我院近７ 年来收治的多发性创伤引起的２６ 例ＭＯＦ患者，在去除病因并积极支持各主要器官功能基础上，联合大剂量应用地塞米松（４０ ｍｇ／８ ｈ）、６５４ －２（２０ ｍｇ／８ ｈ） 连续５ 天。并对不同组别及不同预后的患者检测血浆肿瘤坏死因子（ＴＮＦ），并进行对比。结果　２６ 例患者各器官衰竭发生率分别为：肺５３－９ ％ ，心血管３０－８ ％ ，肾１９－２％ ，肝１６－７％ ，消化道１１－５ ％ ，中枢神经７－７ ％ ；器官衰竭数与病死率的关系为：２ 个器官衰竭病死率２／８ ；３ 个，６３－６％ ；≥４ 个，６／７ ；总病死率５７－７ ％ 。非ＭＯＦ病死率１４－３ ％ 。ＭＯＦ组ＴＮＦ水平明显高于非ＭＯＦ 组（ Ｐ＜ ０－０１） ；而ＭＯＦ者中死亡组的ＴＮＦ水平也明显高于存活组（ Ｐ＜０－０５） 。结论　（１）在多发性创伤中，ＴＮＦ水平升高与ＭＯＦ的发生及发展有密切的关系；（２） 衰竭器官的数量越多，病死率越高；（３） 联合大剂量应用地塞米松、６５４ － ２ ，对防治ＭＯＦ有重要作用。     

肝脏微小占位病变的影像学诊断及评价

肝脏微小病变是指直径≤1．0cm的肝脏占位性病变。由于病灶太小，影像学上易漏诊或误诊，特别是肝癌，一经发现，体积均较大，已到晚期。本文着重介绍微小肝癌和其他常见肝脏微小占位病变的影像学检查及评价。     

老年性腰椎间盘突出症诊断和治疗特点——附56例临床报告

目的 研究老年性腰椎间盘突出症的临床表现和治疗的特点。方法 回顾分析近10年来经手术治疗,资料完整的56例老年性腰椎间盘突出症。结果 在随访平均4年的48例中,优良率为85．4％(41,48)。结论 老年性腰椎间盘突出症病史长,症状不典型,cT能明确诊断。在控制合并症的基础上选择适当的麻醉,行半椎板切除、全椎板切除椎管扩大髓核除手术,疗效多获满意。     

结节性硬化症合并多脏器血管平滑肌脂肪瘤1例

正1病例简介患者因"查体发现双肾错构瘤10余天"入院。患者7岁时开始出现鼻翼局部皮疹,结节样、咖啡色,随年龄增长皮损逐渐扩展至鼻翼两侧并呈蝶形分布,质硬,直径1~5mm不等,压之不褪色。四肢及胸背部等躯干部位未见明显皮损。自诉青春期间出现若干次四肢屈曲并一过性意识不清表现,高度怀疑有癫痫病史。患者自诉其母亲、姐姐及舅舅患有面部类似结节性硬化症(TSC)表现及     

闭合性病理肾损伤的诊断与治疗(附10例报告)

在肾脏病理情况如肾积水、肿瘤、结石等因素的存在下，因肾组织脆性的增加，即使在较小外力作用也可引起闭合性肾损伤犤１犦。本院自１９９０年至２００１年５月共收治１５８例肾损伤，其中病理肾损伤１０例，占肾损伤６．３３％。现就闭合性病理肾损伤的诊断与治疗的有关问题讨论如下。临床资料１．一般资料：本组１０例，男７例，女３例；年龄６～６８岁，平均年龄３７岁。病理肾１０例，双侧肾损伤２例，单侧病理肾损伤８例，左侧５例，右侧３例。２例伤前有肾疾患史，８例否认有肾疾患史。伤时距就诊时间半小时至３天，平均３６．２５小…     

双肾多发性血管平滑肌脂肪瘤合并结节性硬化症的诊治分析

目的 总结双肾多发性血管平滑肌脂肪瘤(RAML)合并结节性硬化症(TSC)的临床特点,提高其诊治水平. 方法 回顾性分析2003年1月至2010年10月10例双侧RAML合并TSC的患者资料,男4例,女6例;年龄18 ～45岁,平均28岁.肿瘤破裂出血急诊入院3例,腰痛不适就诊5例,血尿就诊1例,健康体检发现1例.面部有典型的红色丘疹状血管纤维瘤7例,面部有扁平斑1例;合并癫痫症6例;明显智力障碍4例;表现智力障碍、癫痫症、面部血管瘤的典型三联征者2例.肿瘤出血急诊行经导管选择性肾动脉栓塞术1例,行保留肾单位肿瘤剜除术8例9侧,保守观察2例. 结果 急诊行经导管选择性肾动脉栓塞术患者手术顺利,止血有效.8例9侧保留肾单位手术顺利,剜除肿瘤最大者直径8.0 cm.剜除肿瘤2～6个,平均3.5个.手术时间50～120 min,平均70 min.肾动脉阻断平均时间26 min.术中出血量100 ～800 ml,平均150 ml.1例术中输血400ml,未发生术后出血.术后病理诊断均为RAMI.8例术后随访3～60个月,平均25个月,肿瘤未见复发.肾功能均正常.2例保守观察者分别随访2、3年,肿痛无明显增大及出血. 结论 伴有TSC的双侧RAML应早期诊断,适时根据肿瘤大小、位置及发展情况予以治疗,保留肾单位手术及经导管选择性肾动脉栓塞是有效的治疗方法.     

Giant angiomyolipoma associated with marked pulmonary lesions suggesting lymphangioleiomyomatosis in a patient with tuberous sclerosis

The association between Tuberous Sclerosis (TS) and Angiomyolipoma (AML) is well known. A patient with TS and giant AML mimicking Renal Cell Carcinoma (RCC), measuring 29 × 18 × 11 cm, weighing 4700 gr is presented. Imaging studies revealed coexistent pulmonary lymphangioleiomyomatosis and concurrent renal and pulmonary involvement is extremely rare in patients in TS. We believe that the growth potential of this hamartomatous lesion may reach to a life threatening size. This revised version was published online in August 2006 with corrections to the Cover Date.     

结节性硬化症合并巨大肾血管平滑肌脂肪瘤出血介入栓塞1例

<正>患者女,21岁,2岁时确诊结节性硬化症(tuberous sclerosis complex,TSC),家族无此类病史。2007年起发现双肾血管平滑肌脂肪瘤,2010年肾脏肿瘤自发破裂出血,经保守治疗后缓解。2014年7月2日因出现腹痛、呕吐,腹部包块进行性增大入院。查体:鼻周、顶枕部及趾甲沟可见血管纤维瘤,右腹部可触及20cm×20cm包块,触痛,活动度差。实验室检查:血压105mmHg/60mmHg,红细胞数1.95×1012 g/L,血红蛋白     

Renal angiomyolipoma in Japanese tuberous sclerosis patients

Purpose

Renal angiomyolipoma (AML) is a benign neoplasm that may grow massive in tuberous sclerosis (TS) patients. The aim of this study was to document the characteristics of renal AML in Japanese TS patients.

Methods

Medical records of 29 TS patients followed up at the authors’ center were reviewed for the presence, size, symptom, and treatment of renal AML.

Results

Twenty-four patients screened for renal AML were subdivided into 4 groups: group 0 (n = 8), no mass; group 1 (n = 5), AML less than 1 cm in diameter; group 2 (n = 4), AML 1 to 4 cm in diameter; group 3 (n = 7), AML greater than 4 cm in diameter. When present, AML always affected both kidneys and were multiple. All patients in groups 1 and 2 were symptom free, and the tumors seemed stable in size. All tumors in group 3 grew progressively causing various symptoms. Total or partial nephrectomy or transarterial embolization was performed in 5 patients with limited success.

Conclusions

AML in TS patients can be stable or aggressive. Pediatric surgeons aware of this problem should be involved in a follow-up program.     

双肾血管平滑肌脂肪瘤伴发结节性硬化症的诊治

目的 探讨双肾血管平滑肌脂肪瘤(AML)伴结节性硬化症(TSC)的临床特点,以提高该病的诊治水平.方法 报告本院收治1例双肾AML伴TSC的临床诊治资料并复习文献.结果经过B超、CT及MRI检查确诊.本例女性患者双肾CT及MRI检查发现肿瘤内特异性脂肪密度组织,头颅CT检查发现典型的大脑钙化结节灶.因患者全身多发占位,...     

Bilateral renal angiomyolipoma coexistent with pulmonary lymphangioleiomyomatosis and tuberous sclerosis

A case of bilateral renal angiomyolipoma coexistent with pulmonary lymphangioleiomyomatosis and tuberous sclerosis was described, being in shock with massive hematuria. The left giant angiomyolipoma, filling the almost entire abdomen, was complicated with two large hump and moniliform aneurysms. This life-threatening hemorrhage was successfully treated by transcatheter arterial embolization; packing mechanically detachable coils into the aneurysms and embolization of trunk of the left renal artery. Lymphangioleiomyomatosis has been suggested to be an incomplete expression of tuberous sclerosis. Although coexisting renal and pulmonary involvement in tuberous sclerosis is rare, it is important to recognize lymphangioleiomyomatosis as a pulmonary involvement of angiomyolipoma with tuberous sclerosis.     

Renal cystic disease in the tuberous sclerosis complex

Renal cysts are relatively common in tuberous sclerosis, occasionally causing severe cystic disease with renal failure. Although the imaging features and gross appearances resemble dominant polycystic kidney disease, the histopathological appearances are distinctive, perhaps unique, differing from appearances in other forms of renal cystic disease. The cysts are lined with hypertrophic and hyperplastic cells that probably cause the cysts by obstructing lumina. The renal abnormality may be inherent in tuberous sclerosis, although inconstantly expressed. Renal enlargement is sometimes the first recognized expression of tuberous sclerosis, and the occurrence of renal cysts in a child with seizures and developmental retardation leads to a strong suspicion of the diagnosis.Presented at the Festschrift for Professor R. H. R. White on March 6, 1992, Birmingham, UK     

结节性硬化症相关肾透明细胞癌一例报告并文献复习

目的 探讨结节性硬化症(tuberous sclerosis complex,TSC)相关肾细胞癌(renal cell carcinoma,RCC)的临床诊治特点.方法 回顾性分析1例TSC相关TCC患者的资料.男,22岁.自幼智障伴癫痫.发现双肾肿瘤5年,间断肉眼血尿2年,曾于1年内2次行超选择性左肾动脉栓塞术,但分别于术后6、10个月再次出现肉眼血尿.查体:智障表现,肥胖,头颈部血管纤维瘤及非创伤性趾甲沟纤维瘤.CT平扫检查左肾有一不规则实性占位,最大截面14.2 cm×9.0 cm,CT值45～54HU,增强扫描病变呈不均匀强化,CT值60～78 HU,左肾静脉内有充盈缺损;右肾见多发脂肪密度占位,CT值-38～-25 HU,最大截面7.2 cm × 5.7 cm.检索Pubmed和CBM数据库进行相关文献复习.结果 患者行经腹开放性左肾根治性切除术,病理诊断肾透明细胞癌,肾静脉内见瘤栓.随访4个月未发现肿瘤复发及转移.结论 TSC相关RCC临床罕见,诊断后可行肾部分切除术或根治性肾切除术.

Abstract：

Objective To explore the diagnosis and treatment features of tuberous sclerosis complex associated renal cell carcinoma.Methods A 22-year-old boy with a childhood history of epilepsy and mental retardation presented with a complaint of intermittent painless gross hematuria for the past 2 years.After superselective left renal artery embolization was done twice in the past year, painless gross hematuria was still repeated with 6- 10 months intervals.Physical examination showed retarded face, obesity, visible facial angiofibroma and a ditch fibroma.CT scan showed irregular lesions.The largest cross-section 14.2 cm × 9.0 cm in the left kidney was inhomogeneous enhanced from 45 - 54 HU in the plain phase to 60 - 78 HU in the contrast phase.Filling defect in the left renal vein and multiple fat-density lesions (CT value of -25 - -38 HU) with the largest cross-section 7.2 cm× 5.7 cm in the right kidney were also found in contrast CT scan.The PUBMED and CBM database were reviewed.Results Open retroperitoneal radical left nephrectomy was performed.Pathology showed renal clear cell carcinoma and renal vein thrombosis.There was no tumor recurrence or distant metastasis at 4-month follow-up.Conclusions Tuberous sclerosis complex associated renal cell carcinoma is rarely reported.Timely nephron-sparing surgery is necessary when the diagnosis is established, or radical nephrectomy is also necessary if nephron-sparing surgery is impossible.