彩超引导下经皮肾穿刺活检的临床意义

目的 探讨在彩超引导下对肾脏疾病患者进行经皮肾组织穿刺活检的临床价值。方法 采用PHILIPS非凡彩超诊断仪穿刺架自动活检枪及组织切割针对肾下极进行穿刺，穿刺组织分别送电镜、光镜及免疫学检查。结果 32例患者利用组织切割针进行肾穿刺，取出组织42条，电镜共检出466个肾小球，送病理学检查，检出弥漫性系膜增生性肾小球肾炎16例，IgA肾病6例，轻度系膜增生型IgM肾病5例，狼疮性肾炎2例，紫癜性肾炎1例，局灶增生性肾小球肾炎1例，轻度系膜增生型IgA肾病伴高血压肾脏损害1例。结论 经皮肾穿刺活检，对了解肾脏疾病的病理类型，指导临床治疗及判断预后有十分重要的意义，方法操作简便，成功率高，并发症少，值得推广。     

超声引导下经皮肾穿刺活检的临床意义

目的探讨灰阶B超引导下对肾脏疾病患者进行经皮肾组织穿刺活检的临床价值。方法采用GE200Pro黑白超声仪、穿刺探头、自动活检枪及组织切割针对肾下极进行穿刺,穿刺组织分别送光镜、电镜及免疫学检查。结果36例患者利用组织切割针进行肾穿刺,取出组织44条,电镜共检出452个肾小球送病理学检查,检出弥漫系膜增生性肾小球肾炎17例,IgA肾病8例,糖尿病肾病伴乙型肝炎相关肾炎1例,狼疮性肾炎2例,糖尿病肾病3例,局灶系膜增生性肾小球肾炎2例,肾小球轻微病变3例。结论经皮肾穿刺活检,对了解肾脏疾病的病理类型,指导临床治疗及判断疾病预后具有十分重要的意义。该方法操作简便、成功率高、并发症少,值得推广。     

超声引导下经皮不同方式肾组织活检的临床应用

目的 B型超声引导下对30例肾脏疾病患者进行经皮,肾组织穿刺活检的经验.方法采用东芝240 A型超声仪和穿刺探头,选择右肾下极穿刺.利用同步负压活检装置及组织切割针进行肾穿刺.分别送光镜、电镜及免疫组化检查.结果 30例患者,利用同步负压活检装置进行肾穿18例,利用组织切割针进行肾穿12例,取材率100%.并取出组织物35条,共检出肾小球306个.送病理学检查.结果为肾小球疾病者28例,肾小管疾病者2例.在肾小球疾病中,原发者24例,包括弥漫系膜增生性肾小球肾炎19例,IgA肾病4例,新月体肾小球肾炎1例,继发性者4例,即狼疮性肾炎4例.结论经皮肾穿刺活检,对了解肾脏疾病的病理类型、指导临床治疗、判断疾病预后具有十分重要的意义.     

Alport综合征一家系四代调查分析

Alport综合征又名遗传性肾炎(Hereditary nephritis)，是一严重的遗传性疾病。1902年Cuthrie首先描述了该病遗传方式的传递，1927年Alpon通过对该家系的研究提出其特点为肾炎性尿沉渣改变、听力下降和进行性肾功能减退，因此得名。现将一家系四代35人中有8人患该病的调查结果报道如下：     

进行性肌阵挛癫痫的临床表现与病理

目的探讨各型进行性肌阵挛癫痫的临床发作特点、诊断策略及病理特点。方法对12例进行性肌阵挛癫痫患者的临床发作特点、各项常规辅助检查、脑外组织病理光镜及电镜结果进行分析。结果 12例患者均行常规检查、神经电生理检查及病理检查,其中神经元腊样脂褐质沉积症（NCL）5例,肌阵挛性癫痫伴蓬毛样红纤维型（MERRF）5例,Lafora病1例,Unverricht-Lundborg病（波罗的海肌阵挛）1例。结论进行性肌阵挛癫痫是一组少见的肌阵挛癫痫综合症,通过详细的病史收集,特征性的脑电图,以及脑外组织活检,尤其是电镜的检查,可以早期诊断,正确分型。     

遗传性肾炎

１概述遗传性肾炎又称Ａｌｐｏｒｔ综合征、家族性肾炎、遗传性进行性肾炎。１９世纪已有报道但未引起重视,至１９２７年Ａｌｐｏｒｔ进一步报道一个伴有神经性耳聋的家系后才受到普遍重视。发作性肉眼血尿伴进行性肾衰、神经性耳聋及眼晶状体病变为其特点。国内从１９７...     

42例乙型肝炎病毒相关性肾炎临床病理分析

目的探讨乙型肝炎病毒相关性肾炎（HBV-GN）的临床及病理特点。方法对我科自1984—2006年3月间经皮肾活检病理检查确诊的42例乙型肝炎病毒相关性肾炎患者的临床及病理类型进行回顾性分析。结果42例HBV-GN患者，临床表现以肾病综合征（NS）为主（61．9％），其次为肾炎综合征（26．2％）和无症状尿检异常（11．9％）；病理类型以膜性肾病（MN）多见（66．7％），其次为系膜增生性肾小球肾炎（MsPGN），占23．8％；电镜检查乙型肝炎病毒相关性膜性肾病（HBV-MN）易见电子致密物系膜沉积；免疫荧光检查呈多种免疫复合物沉积。结论乙型肝炎病毒相关性肾炎临床表现多样化，病理轻重不一，容易误诊，应及时进行肾活检。     

1323例肾活检资料病理类型及流行病学分析

目的了解新疆地区肾脏疾病的病理类型及流行病学特点。方法回顾分析新疆维吾尔自治区人民医院1999年12月至2007年6月问肾活检资料1323例。结果1323例中原发性肾小球肾炎占82．76％，继发性肾小球肾炎占17．16％，遗传性肾病占0．08％。原发性肾小球肾炎男：女=1：1．04。继发性肾小球肾炎男：女=1：2．6，两组比较差异有统计学意义（P〈0．05）。原发性肾小球肾炎高发年龄段为25-44岁，继发性肾小球肾炎高发年龄段为15-44岁。结论原发性肾小球肾炎是本地区最常见的肾小球疾病，女性略多于男性，青壮年是原发性肾小球肾炎的高发人群，系膜增生性肾小球肾炎是最常见的原发性肾小球肾炎，狼疮性肾炎是最常见的继发性肾小球肾炎，女性多发。     

自动同步负压活检装置用于肾活检的护理

经皮肾穿刺活体组织检查（简称肾活检）是诊断各种慢性肾小球疾病的重要手段，对了解肾脏疾病的病理类型、指导临床治疗、判断疾病预后都具有十分重要的意义 。我科2001年1月-2005年8月采用自动同步负压活检装置（专利号：971072078）对224例。肾病病人进行了肾活检，现介绍如下。1对象与方法1．1研究对象224例中，男124例，女100例；年龄14岁～18岁（31．1岁±1．6岁）；肾病综合征70例，慢性肾小球肾炎60例，狼疮性肾炎38例，隐匿性肾小球肾炎13例，IgA肾病13例，急性肾功能不全8例，慢性肾功能不全8例，过敏性紫癜性肾炎6例，乙肝相关性肾炎6例，结缔组织病2例。     

超声引导下经皮肾活检的临床应用36例分析

目的探讨超声引导下经皮肾组织穿刺活检术对肾脏疾病的应用价值。方法对36例肾脏疾病患者在超声引导下经皮对肾脏进行穿刺,取出组织行病理检查。结果 36例共穿刺50针,穿出组织50条,长度1～2cm,穿刺成功率100%,其中系膜增生性肾小球肾炎23例,Ⅱ型狼疮性肾炎3例,Ⅲ型狼疮性肾炎2例,Ⅳ型狼疮性肾炎4例,新月体肾炎1例,系膜增生性肾小球肾炎伴局限性肾小球硬化3例。结论经皮肾组织穿刺活检术对了解肾脏疾病的病理类型,指导临床治疗及判断预后具有重要意义。     

Alport syndrome and thin basement membrane nephropathy

Both Alport syndrome and thin basement membrane nephropathy (TBMN) can be considered as genetic diseases of the GBM involving the alpha3/alpha4/alpha5 network of type IV collagen. Mutations in any of the COL4A3, COL4A4 or COL4A5 genes can lead to total or partial loss of this network. Males with mutations in the X-linked COL4A5 gene develop Alport syndrome with progressive renal disease and sometimes extra-renal disease. Females who are heterozygous for a COL4A5 mutation are considered to be carriers for X-linked Alport syndrome. Although their clinical course and GBM ultrastructural changes can sometimes mimic TBMN, more often it tends to be more progressive than usually seen in TBMN. Males or females who are heterozygous for COL4A3 or COL4A4 mutations usually manifest as TBMN, with nonprogressive hematuria, while those who are homozygous or combined heterozygotes develop autosomal-recessive Alport syndrome. Thus, individuals with TBMN can be considered to be carriers for autosomal-recessive Alport syndrome, but there remain some exceptions in which patients heterozygous for COL4A3 or COL4A4 mutations develop autosomal-dominant Alport syndrome. Distinguishing between all these groups of patients requires a combination of family history and a renal biopsy for electron microscopic examination of the GBM and immunohistochemical staining of the GBM for the alpha3, alpha4 and alpha5 chains of type IV collagen. Mutational analysis of the COL4A3, COL4A4, and COL4A5 genes, whenever it becomes available, will be a valuable adjunct to the diagnostic workup in these patients. Novel therapeutic approaches may one day provide a treatment or cure for these patients, avoiding the need for transplantation and dialysis.     

肾脏轻链-重链沉积病一例并文献复习

目的 报告1例肾脏轻链-重链沉积病（IgGκ轻链-γ1重链）.方法 分析临床表现,血清免疫固定电泳,血、尿中轻、重链异常,骨髓活检和肾活检病理资料.结果 临床表现大量蛋白尿,镜下血尿,高血压,贫血,肾功能正常.免疫固定电泳见κ型IgG条带,伴血、尿液中轻链升高.骨髓浆细胞4％.肾活检肾小球呈“结节样病变”,刚果红染色阴性.免疫荧光κ轻链和IgG1（y1重链单抗）沿肾小球基膜（GBM）和肾小管基膜（TBM）线样沉积.电镜见GBM内侧及TBM外侧高电子致密物沉积.结论 肾脏轻-重链沉积病（IgGκ轻链-γ1重链）的诊断,应临床结合病理,特别是进行免疫病理检查.     

Rotor综合征合并慢性肾衰1例家系调查并文献复习

目的：探讨Rotor综合征的发病机制及临床特点,提高临床医师对该病的认识.方法：报告1例合并有慢性肾衰的Rotor综合征的临床资料,复习相关文献,总结其临床表现,诊断方法及预后.结果：该患者通过其临床表现、家族史和肝活检诊断为Rotor综合征,并行肾移植,术后肝功并无明显受损.结论：该病罕见,临床自幼表现为波动性黄疸,肝活检及99mTc-HIDA胆道显像有助于明确诊断,预后较好.     

Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.

Benign familial hematuria (BFH) is characterized by autosomal dominant inheritance, thinning of the glomerular basement membrane (GBM) and normal renal function. It is frequent in patients with persistent microscopic hematuria, but cannot be clinically differentiated from the initial stages of Alport syndrome, a severe GBM disorder which progresses to renal failure. We present here linkage of benign familial hematuria with the COL4A3 and COL4A4 genes at 2q35-37 (Zmax = 3.58 at theta = 0.0). Subsequently, a glycine to glutamic acid substitution was identified in the collagenous region of the COL4A4 gene. We conclude that type IV collagen defects cause both benign hematuria and Alport syndrome. Furthermore, our data suggest that BFH patients can be carriers of autosomal recessive Alport syndrome.     

Nephrotic syndrome in minimal change disease (kidney), focal segmental glomerulosclerosis,and focal mesangioproliferative glomerulonephritis

AIM: To specify clinical and laboratory characteristics of minimal change disease (MCD), focal mesangioproliferative glomerulonephritis (MPGN), focal-segmental glomerulosclerosis (FSGS). MATERIAL AND METHODS: A retrospective analysis of 45 case histories of children (renal biopsy for nephrotic syndrome) has shown that morphologically 13 of them had MCD, 15--FSGS and 17--focal MPGN. Clinical, laboratory, immunofluorescent and electron microscopy findings typical for each of the morphological types were studied. RESULTS: The data obtained suggest that MCD, FSGS and focal MPGN may represent independent forms of glomerulonephritis. CONCLUSION: If a differential diagnosis by renal biopsy is difficult, information from the disease history and clinico-laboratory evidence should be used.     

肾组织活检在急性肾衰竭的诊断与鉴别诊断中的价值

目的 了解肾组织活检在急性肾衰竭诊断与鉴别诊断中的价值.方法 对54例急性肾衰竭患者的肾组织活检资料进行回顾分析.结果 急性肾衰竭以新月体肾炎、急性间质性肾炎,狼疮性肾炎多见,临床诊断与肾组织活检结果尚存在一些差异.结论 肾组织活检对明确诊断及提高临床诊断的正确率及选择治疗方案有重要价值.     

Adenovirus-mediated transfer of type IV collagen alpha5 chain cDNA into swine kidney in vivo: deposition of the protein into the glomerular basement membrane.

Gene therapy of Alport syndrome (hereditary nephritis) aims at the transfer of a corrected type IV collagen alpha chain gene into renal glomerular cells responsible for production of the glomerular basement membrane (GBM). A GBM network composed of type IV collagen molecules is abnormal in Alport syndrome which leads progressively to kidney failure. The most common X-linked form of the disease is caused by mutations in the gene for the alpha5(IV) chain, the alpha5 chain of type IV collagen. Full-length human alpha5(IV) cDNA was expressed in HT1080 cells with an adenovirus vector, and the recombinant alpha5(IV) chain was shown to assemble into heterotrimers consisting of alpha3(IV) and alpha4(IV) chains, utilizing a FLAG epitope in the recombinant alpha5(IV) chain. The results indicate that correction of the molecular defect in Alport syndrome is possible. Previously, we had developed an organ perfusion method for effective in vivo gene transfer into glomerular cells. In vivo perfusion of pig kidneys with the recombinant adenovirus resulted in expression of the alpha5(IV) chain in kidney glomeruli as shown by in situ hybridization and its deposition into the GBM was shown by immunohistochemistry. The results strongly suggest future possibilities for gene therapy of Alport syndrome.     

小儿肾小球疾病肾活检病理诊断价值

目的了解肾活检在小儿肾小球疾病中的诊断治疗意义。方法在彩超引导下，采用1秒钟抽吸法，对49例小儿肾小球疾病患者进行经皮肾活检术，标本做光镜，免疫荧光，必要时做电镜检查。结果49例患儿中，按病因分类，原发性肾小球疾病最常见，占82．25％；病理类型以系膜增生性病变最高，占36．73％，其次为驰肾病，占28．57％。结论肾活检病理诊断对小儿肾小球疾病的诊断、治疗及评估预后有重要价值。     

儿童肾活检的临床研究

目的探讨肾活检在诊断治疗以及判断儿童肾小球疾病的预后的重要作用。方法自1996年以来共37例患儿接受B超引导下自动切割式肾活检。结果所有肾活检成功，元并发症。小儿肾小球疾病以原发性多见。结论不同病理类型与预后相关，肾活检是最可靠的诊断方法，它不仅为治疗提供可靠依据，还能够提示预后。     

Membranous nephropathy. Long-term follow-up and association with neoplasia.

Sixty-six patients of all ages whose renal biopsy appearances satisfied strict criteria for the histopathological diagnosis of membranous nephropathy were studied and followed for a mean of 5-4 years (range 1 to 20 years). From initial investigation seven patients were found to have associated neoplasia, and in two patients the condition followed treatment with a mercurial diuretic and gold. One patient was Australia antigen positive. Two patients developed renal vein thrombosis, but in both this appeared to follow not precede their nephrotic syndrome. In the remaining 56 patients there was no associated factor. During the follow-up period, approximately one-quarter of the patients (15) died, nine from renal failure; one-quarter (10) had a persistent nephrotic syndrome, another one-quarter (15) proteinuria of lesser degree. The final one-quarter (16) are now in complete remission. The prognosis of the 54 patients with an initial nephrotic syndrome was poorer than the 12 with lesser proteinuria and no oedema at onset; five of 11 children were in complete remission when last seen. All but one of the nine patients who developed terminal chronic renal failure 4 to 18 years from onset had an unremitting nephrotic syndrome, eight of the 10 currently alive with a persistent nephrotic syndrome have reduced renal function. Renal functional deterioration did not occur in the absence of proteinuria. There was only slight correspondence between the stage of biopsy appearance, glomerular filtration rate at time of biopsy, time of the biopsy from apparent onset, or status at last follow-up. Staging is therefore of limited prognostic value. Twenty-two patients were treated with corticosteroids for 2 to 36 months; we detected no short or long-term benefit when compared to patients not so treated.