儿童无症状血尿肾穿刺指征探讨

目的探讨无症状血尿儿童的肾穿刺指征。方法回顾分析485例无症状血尿儿童的肾脏病理类型。根据血尿程度及有无合并蛋白尿将入组患儿分为,镜下血尿组、肉眼血尿组和血尿合并蛋白尿组;其中镜下血尿组再根据血尿程度分为尿红细胞15/HPF组,15~30/HPF组和30/HPF组。结果 485例患儿中,男227例、女258例,平均(7.23±2.93)岁;镜下血尿组318例,最常见病理类型为轻微病变(64.8%),其次为局灶性肾小球病变(16.7%)和局灶节段性肾小球硬化(8.2%);肉眼血尿组119例,最常见病理类型也是轻微病变(26.1%),其次为Ig A肾病(24.4%)和系膜增生性肾小球疾病(20.2%);血尿合并蛋白尿组48例,最常见病理类型为Ig A肾病(29.2%)和轻微病变(29.2%)。镜下血尿组、肉眼血尿组和血尿合并蛋白尿组的病理类型分布差异有统计学意义(χ~2=152.03,P0.001);其中镜下血尿组的轻微病变比例最高;IgA肾病和系膜增生性肾小球肾炎比例在在肉眼血尿和血尿合并蛋白尿组中比例较高。镜下血尿组中,尿红细胞15/HPF组149例,(15~30)/HPF组96例,30/HPF组73例,三组间病理类型构成差异无统计学意义(χ~2=15.18,P=0.512);最常见病理类型均为轻微病变。结论无症状血尿者中,为肉眼血尿或者血尿合并蛋白尿者应尽早行肾穿刺明确病理诊断。     

伴有新月体形成的原发性IgA肾病的临床与病理分析

目的了解儿童伴有新月体形成的原发性IgA肾病的临床与病理特点.方法对29例伴新月体形成的原发性IgA肾病患儿的临床及病理资料进行分析,并依受新月体累及的肾小球比例分组比较,≥50%(A组),9例;<50%(B组),20例.结果 (1)临床方面29例均有血尿+蛋白尿,尿蛋白≥1 g/24 h 者22例(76%)和肉眼血尿86%,水肿、高血压、肾功能异常者均不及半数.A组以肾病综合征和急进性肾炎为主,持续性肉眼血尿、大量蛋白尿、高血压、肾功能衰竭均较B组明显(P<0.05).B组无症状性血尿+蛋白尿者65% .(2)病理方面新月体形成累及肾小球5%～85%, A组为52%～85%(其中新月体型IgA 肾病10%),B组5%～40%,以细胞性为主.均有系膜增生和小管-间质病变,球囊粘连易见. 两组比较A组系膜增生严重、小球硬化和小管灶状萎缩明显(P<0.05),B组球囊粘连多见(P<0.05).(3)免疫荧光均有IgA+IgM+C3沉积,合并IgG沉积者18例(62%),其中5例(17%)为"满堂亮"(A组占4例).未见一例单纯IgA沉积.结论伴有新月体形成的原发性IgA肾病临床均有血尿合并蛋白尿,以持续性肉眼血尿和大量蛋白尿为主;以弥漫性系膜增生为主要病理改变,易见球囊粘连和小管-间质病变;沉积物以IgA+IgM型或IgA+IgM+IgG型多见,部分呈"满堂亮";较一般型IgA肾病临床、病理明显加重.     

儿童孤立性血尿肾脏病理变化与尿层粘连蛋白及Ⅳ型胶原关系研究

为探讨孤立性血尿患儿尿中Ⅳ型胶原 (CL_Ⅳ )及层粘连蛋白 (LN)水平的变化及与肾脏病理的关系 ,应用放射免疫分析法对50例正常儿童和进行肾穿刺病理活检的33例孤立性血尿患儿尿中CL_Ⅳ、LN进行检测。结果显示 ,孤立性血尿患儿尿中CL_Ⅳ、LN水平显著高于正常对照组 (P<0.01) ;病理诊断为肾小球局灶节段性透明变性和硬化组尿中CL_Ⅳ、LN水平高于轻微病变组 (P<0.01)。提示孤立性血尿患儿尿中CL_Ⅳ、LN水平变化与肾小球轻微病变、肾小球局灶节段性透明变性和硬化等肾脏病理变化相关 ,能间接反映肾脏病理变化严重程度 ;检测尿CL_Ⅳ和LN水平对监测孤立性血尿患儿的病情变化、判断预后、指导治疗具有临床意义     

47例Alport综合征临床与病理分析

目的 分析不同年龄组Alport综合征患儿的临床与病理特点.方法 回顾性分析我院1990年1月-2007年1月47例住院并且明确诊断为Alport综合征患儿的临床及病理资料.结果 男32例,女15例,男女比例2.1:1,年龄15个月～13岁,平均9.0岁.47例患儿中39例有明确家族史,其中X连锁显性遗传37例;常染色体隐性遗传2例.28例(59.3%)患儿首发症状为肉眼血尿或镜下血尿,14例(29.8%)患儿为蛋白尿、水肿.Alport综合征临床表现为孤立性血尿11例(23.4%)、血尿合并蛋白尿17例(36.2%)、肾病综合征14例(29.8%)、肾功能不全5例(10.6%);孤立性血尿型、血尿合并蛋白尿型见于研究病例中的所有年龄组儿童,而肾病综合征型、肾功能不全型仅见于7～13岁年龄组儿童.肾组织病理显示,33例(70.2%)光镜改变为系膜增生性病变(MsPGN),13例(27.6%)表现为局灶节段性肾小球硬化(FSGS),1例(2.1%)表现为膜增生性肾小球肾炎(MPGN).免疫荧光多以IgM沉积为主19例(40.4%),以IgA沉积为主9例(19.1%),以IgG沉积为主9例(19.1%),免疫荧光阴性10例(21.4%).电镜下39例出现典型的肾小球基底膜病变,8例显示基底膜变薄.47例患儿中46例肾脏和(或)皮肤Ⅳ胶原a链分布异常.结论 Alport综合征男性患儿发病率高于女性.不同年龄组Alport综合征肾脏表现有明显差异,血尿伴随疾病始终,但随着病程延长,尿蛋白量逐渐增加.Alport综合征肾脏病理光镜下无特征表现,主要以系膜增生为主,小年龄组患儿电镜下GBM病变不典型,需结合Ⅳ胶原a链免疫荧光检测明确诊断.     

红细胞0～2/HPF孤立性微量肾小球血尿的临床意义

目的 探讨尿检红细胞0-2／HPF的孤立性微量肾小球血尿的临床意义。方法 57例肾穿刺血尿患儿按其尿检红细胞数目分为3组，红细胞0～2／HPF的孤立性微小肾小球血尿患儿15例，尿检红细胞≥3个／HPF的孤立性肾小球镜下血尿17例，肉眼血尿患儿25例；肾组织进行光镜、电镜、免疫荧光检查及病理损害积分；对其临床、病理及病理损害积分对比分析。结果 3组病理改变涉及系膜增生性肾炎(MsPGN)、轻微病变(minimal lesion disease，MLD)、局灶节段增生性肾炎(FSPGN)、毛细血管内增生性肾炎(EnCPGN)，其中以MsPGN最为常见43／57例(75.4％)；不同临床表现类型的血尿病理改变类型差异无显著性，病理损害程度不完全与临床血尿轻重成正比。结论 尿检红细胞0～2／HPF的孤立性微量肾小球血尿可能为某些肾脏疾病的早期改变，其病理改变具多样性，随访及掌握肾穿刺活检的适应证进行病理检查，对明确诊断，指导治疗，改善预后有重要意义。     

儿童新月体性IgA肾病临床与病理分析

目的 了解儿童原发性新月体性IgA肾病的临床、病理和免疫病理的特征 方法 分析9例儿童原发 性新月体性IgA肾病患儿的临床、病理和免疫病理资料,进行疗效观察及随访 结果 临床表现为肾病综合征5例, 急进性肾炎3例,无症状性血尿和蛋白尿1例。尿蛋白均>2 g／d,其中>3 g／d者7例:有持续性肉眼血尿8例,其中>2 周者7例;肾功能减退苦8例,其中5例仅内生肌酐清除率(CCr)轻度下降者;伴高血压7例 9例肾病理均有不同程 度的弥漫性系膜增生和小管-间质病变,平均74.5％肾小球有新月体形成,半数病例可见球囊粘连、小球硬化、节段内 皮增生和间质灶状纤维化。免疫荧光无1例单纯IgA型,IgA M和IgA M G型占55.6％,4例呈"满堂亮"。8例经大剂 量甲基泼尼松龙冲击2~4个疗程治疗,肉眼血尿、高血压全部消失,肾功能恢复正常,蛋白尿有不同程度改善 7例随 访3~18个月,3例尿蛋白正常,2例轻度蛋白尿(<1 g／d),尿蛋白>3 g／d者2例 结论 本组儿童原发性新月体性IgA 肾病临床以肾病综合征为主,持续性肉眼血尿和大量蛋白尿突出,肾功能减退程度不一;肾小球、小管和间质均有急、 慢性病理改变,球囊粘连、小球硬化和间质纤维化易见,免疫病理以IgA合并IgM、IgG沉积为主,可见"满堂亮"现象 及时大剂量甲基泼尼松龙冲击治疗,短期疗效好。     

从复旦大学附属儿科医院31年肾脏病理及临床资料反思肾活检指征

目的 了解复旦大学附属儿科医院肾脏风湿科肾脏疾病的病理学类型及临床特点,并对肾活检指征进行反思。方法 回顾性分析1979至2009年肾活检病理学分型和临床资料,并以10年为一个间期分3个阶段进行分析比较。结果 31年中肾活检1 633例,其中1 419例满足入选条件进入分析。①原发性、继发性和遗传性肾脏疾病分别占63.9%（907例）、23.2%（329例）和12.1%（172例）。②原发性肾脏疾病中,IgA肾病（26.6%,241/907例）、微小病变病（23.0%,209/907例）和轻微病变（18.1%,164/907例）所占比例较高,局灶节段肾小球硬化仅占3.0%（27/907例）;继发性和遗传性肾脏疾病分别以紫癜性肾炎（47.1%,155/329例）和薄基膜肾病（80.8%,139/172例）所占比例最高。③31年间肾活检病理学类型构成比的变化趋势为IgA肾病、轻微病变和紫癜性肾炎在各阶段所占比例逐渐增加,系膜增生性肾小球肾炎及HBV相关性肾炎所占比例逐渐减少。④肾活检临床表现以血尿（38.8%,551/1 419例）和原发性肾病综合征（30.9%,439/1 419例）多见。血尿中单纯性镜下血尿占14.5%（206/1 419例）,其病理类型主要为薄基膜肾病（52.9%,109/206例）和轻微病变（23.3%,48/206例）;原发性肾病综合征初发为单纯性肾病的患儿中激素依赖及频复发占11.1%（157例）,其病理学类型主要为微小病变（61.8%,97例）和轻微病变（17.2%,27例）。结论 肾活检病理学的构成比中仍以原发性肾脏疾病多见,主要为IgA肾病和微小病变,临床表现以血尿和原发性肾病综合征为主。肾活检对于单纯性镜下血尿患儿意义相对有限,临床上可密切随访尿蛋白和尿微量蛋白,如有异常再考虑行肾活检。而对于原发性肾病综合征激素依赖及频复发,特别是初发表现为单纯性肾病的患儿,临床上应关注糖皮质激素的不良反应,如出现严重不良反应,需加用免疫抑制剂特别是环孢素A和他克莫司前应考虑行肾活检。     

儿童胡桃夹现象并肾脏疾病24例

目的 探讨儿童胡桃夹现象并肾脏疾病的临床特点及诊治情况.方法 回顾性调查2009年10月-2010年10月在本院儿内科住院的24例存在胡桃夹现象患儿的临床资料,分析其合并疾病、临床表现、辅助检查特点和治疗情况.结果 24例诊断为胡桃夹现象的患儿中,单纯血尿者、仅存在肾小管损伤者各3例(各12.5%),单纯蛋白尿者8例(33.3%),血尿、蛋白尿者10例(41.7%).24例中10例并紫癜性肾炎(41.7%),6例并IgA肾病(25.0%),4例并肾病综合征(16.7%),3例并过敏性紫癜(12.5%),1例并乙型肝炎病毒相关性肾炎(4.2%).10例彩超诊断为胡桃夹现象的患儿尿检存在肾小球源性血尿和(或)蛋白尿,肾脏病理提示并肾小球疾病.4例临床或肾脏病理诊断为肾小球疾病的患儿,尿检存在非肾小球源性血尿或经治疗后仍存在较长时间的轻度血尿和(或)蛋白尿,彩超检查存在胡桃夹现象.患儿均存在血β<,2>微球蛋白、尿β<2>微球蛋白、N-乙酰-β-氨基葡萄糖苷酶升高.结论 胡桃夹现象可与肾脏疾病共同存在.胡桃夹现象易损伤肾小管.必要时应行肾活检以助诊.     

原发性免疫球蛋白A肾病55例临床病理分析

目的探讨儿童原发性免疫球蛋白A肾病(IgAN)的临床、病理特征及预后。方法对1996~2005年经肾活检确诊为原发性IgAN的患儿55例进行详尽的临床病理分析。本组男35例,女20例,发病年龄2~16岁,平均9岁,占同期肾活检的10.5%。结果临床表现为肾病综合征占30.9%、孤立性血尿占25.5%、血尿蛋白尿占23.6%、急性肾炎综合征占18.2%、慢性肾炎综合征占1.8%;病理分级以Ⅲ级多见(61.8%),其次为Ⅳ级(21.8%)和Ⅱ级(12.7%),Ⅰ级仅占3.6%;免疫病理分型IgA IgM IgG( C3)型占45.5%,IgA IgM( C3)型30.9%,IgA单独沉积21.8%,满堂亮者1.8%。双向有序χ2检验表明临床表现的严重程度与病理分级间存在线性关联,伴蛋白尿者病理改变较重;且临床表现与免疫病理分型间也具有一定相关性,孤立性肉眼血尿患儿中,以IgA型较多见,而表现为肾病综合征患儿中,IgA IgM IgG( C3)型最多见。对其中24例平均随访39个月,除1例孤立性血尿尿检无改变,1例血尿蛋白尿蛋白尿好转血尿无改善外,其他患儿均明显好转,仅有轻微血尿或微量蛋白尿。结论儿童原发性IgAN的临床表现与病理特征存在一定程度关联。临床表现为肾病综合征及肾炎综合征者病理改变较重,以Ⅲ、Ⅳ级为主,而孤立性血尿者病变较前者轻。     

单纯性血尿患儿肾组织免疫病理及肾小管血管内皮细胞生长因子的表达

目的 观察单纯性血尿患儿肾组织免疫病理变化及肾小管血管内皮细胞生长因子(VEGF)的表达,探讨VEGF在单纯性血尿发病机制中的作用.方法 选取2004年1月-2007年3月在苏州大学附属儿童医院就诊并行肾活检的32例单纯性血尿患儿,均于肾活检后,取其部分肾组织经快速冷冻切片行常规病理和免疫荧光分析.同时采用免疫组织化学方法 检测其肾小管VEGF表达情况,并进行统计学分析.结果 不同临床类型的单纯性血尿患儿肾组织病理主要表现为系膜增生性改变,其中轻度增生和弥散性增生分别占37.50%和46.88%,少数伴局灶/节段性细胞增生、坏死、纤维化和肾小球硬化.不同临床类型、病理类型的病例均可见IgA和(或)IgM沉积,其中系膜区以IgA沉积为主者占62.50%,且常伴IgM和(或)IgG沉积;以IgM沉积为主(不伴IgA)者占37.50%,其中仅有IgM者9例,占28.13%,少数伴IgG沉积.与对照组比较,各单纯性血尿组患儿肾小管VEGF表达均显著降低(P＜0.05).不同病理类型间弥散性系膜增生(Ⅲb级)患儿肾小管VEGF阳性表达率略低于轻微改变(Ⅰ级)患儿,二者比较无显著性差异(P＞0.05).伴局灶/节段性改变(Ⅱ级)的患儿肾小管VEGF阳性表达率均较Ⅰ级和Ⅲb级患儿降低,其中Ⅱb加Ⅲb与Ⅲb组间比较无显著性差异(P＞0.05),Ⅰ级与Ⅱb加Ⅲb和Ⅱa加Ⅲb级间,及Ⅲb级与Ⅱa加Ⅲb级间比较均存在显著性差异(Pa＜0.05);Ⅱa加Ⅲb级无症状血尿组肾小管VEGF表达率低于Ⅱb加Ⅲb组,二组间比较无显著性差异(P＞0.05).结论 单纯性血尿患儿肾组织主要表现为系膜增生性改变,伴IgA和(或)IgM沉积,提示免疫炎性反应在本病发病机制中起重要作用.各组病例肾小管VEGF表达降低,肾脏保护因素减弱,可能也是单纯性血尿发生、发展的重要影响因素.     

Glomerulopathy with mesangial IgM deposits: Long-term follow up of 64 children

BACKGROUND: The aim of the present study was to investigate to what extent IgM nephropathy in children with minimal change nephrotic syndrome (MCNS) and diffuse mesangial hypercellularity (DMH) evolves to focal segmental glomerulosclerosis (FSGS). METHODS: Tissues from renal biopsies were examined by light microscopy (LM), immunofluorescence (IF) and, in four cases, by electron microscopy (EM). From a total of 352 nephrotic children, 121 had renal biopsy results as steroid dependent or resistant. A diagnostic renal biopsy was also performed in 331 children with non-nephrotic proteinuria and/or hematuria. A second renal biopsy was performed in 16 children whose renal function was impaired during the follow up. The clinical course of IgM-positive children was compared with that of IgM-negative children. RESULTS: Of the 121 nephrotic children with renal biopsy, 85 were MCNS. Twenty were IF positive mainly for IgM, six of whom (30%) presented evolution to FSGS, while of the remaining 65 IF-negative children, only three (4.6%) presented evolution to FSGS. Of the total 331 children with non-nephrotic proteinuria and/or hematuria, 139 were diagnosed as IgA--IgG nephropathy, 44 had positive IF for IgM and 148 were IF negative. Of the 44 children IF positive for IgM, seven (15.9%) presented evolution to FSGS, while none of the 148 IF-negative children presented evolution to FSGS. The follow-up time for all children ranged from 1 to 14 years. CONCLUSIONS: Of IgM nephropathy patients with MCNS and DMH, a significant percentage develop impaired renal function, due to the evolution of FSGS, as revealed by repeat biopsy during long-term follow up.     

Analysis of renal biopsies performed in children with abnormal findings in urinary mass screening

Background: School urinary mass screening tests are performed to make early diagnosis and provide proper treatment for chronic renal diseases. However, very few systemic analyses or studies have been reported regarding final diagnosis made on children with abnormal urinary screening results. Aim: To study the cases of renal biopsy in children detected in urinary screening. Methods: We retrospectively analysed 461 cases of renal biopsy performed on children referred to us with abnormal school urinary mass screening results who satisfied indications for renal biopsy. Results: Pathologically abnormal findings were observed in 285 (61.8%) patients. Thin glomerular basement membrane disease was detected in 127 (27.5%) cases and IgA nephropathy in 121 (26.2%) cases. Among those 461 children, microscopic haematuria was observed in 289 (62.7%) patients, proteinuria in nine (2.0%), and both in 163 (35.4%). In addition, a statistically higher rate of pathological abnormalities on renal biopsy was noted in the group with microscopic haematuria combined with proteinuria and also in cases with more severe haematuria.

Conclusion: School urinary mass screening has greatly contributed to diagnosing chronic renal diseases. Continuous medical observation is required when abnormal urinalysis is observed, and a more aggressive medical approach such as renal biopsy should also be performed if necessary.     

Alteration of lung diffusion capacity in IgA nephropathy.

OBJECTIVE: To establish whether changes of lung transfer for carbon monoxide (TLCO) are related to the phase of IgA nephropathy. METHODS: Respiratory function was tested in 12 children with IgA nephropathy assessed by percutaneous renal biopsy. This was done during acute exacerbations or haematuria-free phases of the disease. RESULTS: TLCO was low in 12/13 measurements made in the haematuric phase of IgA nephropathy or during the month following gross haematuria (mean TLCO 64% of expected values). Lung volumes and blood gas values were normal and only minor radiological signs of interstial lung involvement were observed in 11/12 patients. When respiratory tests were performed more than three months after gross haematuria, TLCO was low in 4/9 patients, with no relation to the significance of residual proteinuria or severity of findings at renal biopsy. There was a significant difference between tests performed when haematuria was present or recent and those performed more than three months after an episode of gross haematuria (p < 0.01). CONCLUSIONS: The decrease of TLCO in the acute phases of the disease is probably related to alterations of the lung alveolarcapillary membrane by immune complexes containing IgA. This non-invasive technique, easy to perform and repeat, could be of value in the diagnosis of IgA nephropathy in haematuric children.     

Alteration of lung diffusion capacity in IgA nephropathy

OBJECTIVE: To establish whether changes of lung transfer for carbon monoxide (TLCO) are related to the phase of IgA nephropathy. METHODS: Respiratory function was tested in 12 children with IgA nephropathy assessed by percutaneous renal biopsy. This was done during acute exacerbations or haematuria-free phases of the disease. RESULTS: TLCO was low in 12/13 measurements made in the haematuric phase of IgA nephropathy or during the month following gross haematuria (mean TLCO 64% of expected values). Lung volumes and blood gas values were normal and only minor radiological signs of interstial lung involvement were observed in 11/12 patients. When respiratory tests were performed more than three months after gross haematuria, TLCO was low in 4/9 patients, with no relation to the significance of residual proteinuria or severity of findings at renal biopsy. There was a significant difference between tests performed when haematuria was present or recent and those performed more than three months after an episode of gross haematuria (p < 0.01). CONCLUSIONS: The decrease of TLCO in the acute phases of the disease is probably related to alterations of the lung alveolarcapillary membrane by immune complexes containing IgA. This non-invasive technique, easy to perform and repeat, could be of value in the diagnosis of IgA nephropathy in haematuric children.     

儿童肾病综合征肾组织病理光镜和免疫荧光分型的关系

目的 探讨肾组织光镜病理和免疫荧光病理的相关性.方法 回顾性分析410例原发性肾病综合征行经皮肾活检患儿的肾组织病理资料.结果 410例患儿肾组织光镜病理类型分布为:轻微病变(MCNS)133例(32.4%),系膜增生性肾小球肾炎(MsPGN)229例(55.9%),膜增生性肾小球肾炎(MPGN)5例(1.2%),膜性肾小球肾炎(MN)7例(1.7%),局灶节段硬化(FSGS)6例(8.8%).肾组织免疫荧光病理类型分布为:IgA型41例(10%),IgM型66例(16.1%),IgA+M+G+C3型 9例(2.2%),补体为主型8例(2%),无免疫复合物型286例(69.8%).MCNS、MsPGN、FSGS均以无免疫复合物型多见,MPGN以补体为主型多见,MN型以IgA+M+G+C3型多见.5种不同肾组织光镜病理类型中的免疫荧光类型分布差异有统计学意义(χ2 ＝ 87.673,P ＜ 0.01).结论 5种肾组织光镜病理的免疫荧光病理存在差异.     

Long term prognosis of recurrent haematuria.

A long term follow up study of 100 children referred with recurrent haematuria for at least one year to two regional paediatric nephrology units is described. The mean duration of follow up was 8.2 years. An adequate renal biopsy was obtained in 96 and eight cases of Alport''s syndrome and 10 of IgA nephropathy were diagnosed (20% and 26% respectively of the biopsies examined by electron microscopy and immunofluorescence). Five patients developed end stage renal failure and six hypertension requiring treatment, with the occurrence of these complications increasing progressively with increasing duration of follow up (1% at five years compared with 12% at 10 years). Adverse prognostic features were persistence of microscopic haematuria, proteinuria at presentation, and appreciable changes on renal biopsy. Eighty four patients had first degree relatives tested for haematuria; 30% of these families had another affected member. With long term follow up recurrent haematuria is associated with considerable morbidity and potential mortality.     

以激素耐药型肾病综合征起病的Alport综合征15例临床分析

目的 对以儿童激素耐药型肾病综合征(steroid-resistant nephrotic syndrome,SRNS)起病的Alport综合征(Alport syndrome,AS)的临床资料、病理和基因检测情况进行临床分析,以提高对AS的认识.方法 选取2015年1月至2019年12月广州医科大学附属广州市第一人民...     

Focal Segmental Glomerulosclerosis Associated with Mitochondrial Cytopathy: Report of Two Cases with Special Emphasis on Podocytes

We report two children with focal segmental glomerulosclerosis (FSGS) associated with mitochondrial cytopathy (MC). Case 1 was diagnosed as MC with the findings of ptosis, ophthalmoplegia, failure to thrive, high serum lactate and pyruvate levels, ragged red fibers in muscle biopsy and the common 4.9 kb deletion in mtDNA when she was four years old. She subsequently developed FSGS four years later. Case 2 was a four month-old girl presenting with feeding difficulty from birth, with vomiting, seizures and nystagmoid eye movements, nephrotic proteinuria and hematuria. Renal biopsy revealed FSGS. Ultrastructural study demonstrated markedly pleomorphic mitochondria in podocytes with a severe effacement of foot processes. The analyses of muscle biopsy and skin fibroblasts for respiratory chain enzymes were found to be normal, while mitochondrial DNA analysis revealed the population of a single deleted mtDNA in the heteroplasmic state. The present cases illustrate FSGS as a rare renal complication of mitochondrial disease and provide further evidence of podocytes possessing abnormal mitochondria which may cause glomerular epithelial cell damage leading to glomerulosclerosis.     

IgA nephropathy in a girl with mitochondrial disease

Mitochondrial renal disease is one of the important causes of end‐stage renal disease in children and its incidence may be underestimated. We here describe the case of a 13‐year‐old girl who was diagnosed with mitochondrial disease (MD) accompanied by IgA nephropathy (IgAN). She presented with persistent proteinuria, short stature, and hearing defect, and her younger sister had the same symptoms. Renal biopsy indicated mild focal segmental mesangial proliferation with dominant mesangial IgA deposition on immunofluorescence. Electron microscopy showed marked proliferation of abnormal mitochondria in the proximal tubular cells. Enzyme activity of the mitochondrial respiratory chain complex I and IV in cultured skin fibroblasts was significantly decreased. This case indicated the possible co‐occurrence of IgAN and MD. Underlying MD should be considered in patients with urine abnormalities, especially in those with multiple organ involvement.