先天性梅毒致继发性肾病综合征一例

患儿,女,3d龄,因腹胀2d,于2001年10月20日入院。患儿系第1胎第1产,胎龄34周,在外院剖宫产娩出。生后2d肛门少许黏液状物排出,未见胎粪,腹胀渐加重而转入我院。入院检查:体温37℃、呼吸36次/min、脉搏136次/min、体重1.8kg。未成熟儿外貌,哭声弱,面色苍白,无黄染,心肺(-),腹胀,肠呜音弱,口周、四肢及会阴肛周皮     

前纵隔局灶性Castleman病并肾病综合征外科治疗1例

病人男，42岁，眼睑、双下肢膝关节以下水肿5年，尿俭异常1d。双侧眼睑、双下肢膝关节以下水肿为凹陷性，自觉尿量减少．伴有轻度腹胀。、无其他明显阳性体征、症状。入院后查尿常规示：白细胞（＋），管型颗粒（＋＋＋），尿蛋白（＋＋＋）；血常规：白细胞9．33×10^9／L，血红蛋白13g/L，[第一段]     

急性非化脓性发热性结节性脂膜炎并发肾病综合征一例

患者，女性，13岁，因反复间歇发热10年，双下肢水肿1，年于2005年11月10日入院。发热时约38℃，伴全身红色斑丘疹，经治疗效果不佳，诊断不清。2005年1月出现双下肢水肿，于广州某医院诊治，查尿蛋白量5g／L，诊为肾病综合征，予激素等治疗，未见明显效果。2005年3月于江西赣州某医院诊治，查白蛋白30．4g／L，总胆固醇7．7mmol／L，抗核抗体、抗ds-DNA、抗Sm均为（-），     

LAMB2基因新突变所致先天性肾病综合征一例及文献复习

目的通过对1例Pierson综合征的女性患儿临床型和基因型分析并进行相关文献复习,以提高对 Pierson综合征的认识。方法检测先证者各项血生化指标以及详细体格检查;二代测序分析先天性肾病综合征相关的21种基因;用 Sanger 方法验证先证者及其父母外显子突变状态。结果先证者血生化检测显示大量蛋白尿（尿蛋白肌酐比53497.1μg/mg）,尿液检测显示隐血＋＋＋,蛋白＋＋＋,低白蛋白血症（16.1 g/L）;基因分析显示先证者LAMB2基因编码区存在复合杂合突变, Exon9c.1176_1178del TCT导致392位苯丙氨酸缺失,来自先证者母亲;Intron29c.4923＋2T〉G导致剪切突变,来自先证者父亲。先证者给予间断输注白蛋白,维持电解质酸碱平衡治疗,因感染于117日龄死亡。根据以上临床资料,总结复习相关文献。结论该患儿的LAMB2的复合杂合突变是导致Pierson综合征的新突变;Pierson综合征肾外症状表型和肾脏表型并不平衡,肾脏表型可能与基因突变所致蛋白功能缺陷程度相关,同时也受到表观遗传学影响;而眼部表型可能与LAMB2的基因型相关;因此对于婴儿期出现的肾病综合征或肾病范围蛋白尿的患儿,无论是否存在肾外的症状均应进行相关基因分析除外Pierson综合征。随着二代测序在临床的应用,必须仔细分析以确定二代测序所发现的新突变与疾病的关系。     

家系杂合子女性遗传的Fabry病肾病综合征一例

患者男，27岁。因皮疹12年。双下肢水肿6年，加重10d入院。患者12年前发现双侧臀部、下腹部、股部暗红色皮疹，高出皮肤表面。伴有周期性四肢剧痛。可自行缓解：6年前双下肢间断水肿，乏力；10d前尿量减少，水肿加重。余现病史无特殊。家族第1代中其祖母、祖父、外祖母、外祖父均高龄．身体健康。第Ⅱ代其母1人，35岁时患类同病死于尿毒症。第Ⅲ代首发证者为该患者，其姐姐现30岁，身体健康。     

急性动脉阻塞导致肌病肾病代谢综合征17例的治疗

目的：总结急性动脉阻塞肌病肾病代谢综合征（myonephropathic-metabolic syndrome,MNMS)的诊治经验。方法：回顾性分析1994年1月至2001年3月由急性动脉阻塞导致的MNMS17例的临床资料。结果：5例存活，6例死于高钾血症引起的心搏骤停，6例死于急性肾功能衰竭（acute renal failure,ARF)为首发的多器官功能不全综合征（multiple organ dysfunction syndrome,MODS)，死亡率71％，截肢率41％，结论：急性动脉阻塞尽快重建血流，骨筋膜室综合征尽早行筋膜室切开术及坏疽肢体尽早截肢是预防和治疗MNMS的关键，早期大量补液，应用碱性药物可预防ARF，ARF者早期行血液透析是治疗MNMS的重要措施。     

异体骨髓移植术后并发慢性移植物抗宿主病相关的膜性肾病一例

我们遇到1例慢性移植物抗宿主病（cGVHD）相关的膜性肾病，报道如下。 患者，男，15岁，1997年在本院诊断为急性淋巴细胞性白血病，于2004年4月在本院行异体骨髓移植术。术后给予甲泼尼龙（美卓乐）64mg／d及环孢素A5．6mg·kg^-1·d^-1口服，并逐渐减量。8个月后出现颜面及双下肢水肿、皮肤色斑、视物不清及尿蛋白3＋，诊断为cGVHD。     

A case of atypical congenital nephrotic syndrome

We present a female newborn with the nephrotic syndrome of intrauterine onset and a unique set of extrarenal abnormalities, as well as atypical renal lesions. The extrarenal anomalies comprised a soft tissue hemangioma in the frontotemporal region, unilateral microphthalmia (with persistent hyperplastic corpus vitreous and detachment of the retina), and glaucoma in the other eye. Immature glomeruli and/or glomeruli with large cellular crescents were found in renal biopsy specimens in the 3rd week of life. On autopsy, 7 weeks later, diffuse mesangial sclerosis (DMS) was the predominant type of glomerular lesion. In addition, dilations of tubules, forming microcysts, as well as clusters of infiltrating cells in the interstitium, were found both in renal biopsy and autopsy specimens. Although the symptoms observed in our patient did not match any reported in association with the known forms of the congenital nephrotic syndrome (CNS), the most probable diagnosis seemed to be CNS due to DMS of intrauterine onset, with superimposed drug-related tubulointerstitial nephritis.     

A case of congenital nephrotic syndrome associated with positive C1q immunofluorescence

We present a 1-month-old girl with a congenital nephrotic syndrome and unusual histological findings. Immunofluorescence microscopy demonstrated granular mesangial deposition of C1q and electron microscopy revealed electron-dense mesangial deposits. Her heavy proteinuria gradually decreased and the steroid therapy did not have a significant effect. Her renal function was normal throughout the entire period of observation. The clinical evidence and histopathological features of this patient were compatible with C1q nephropathy.     

Steroid-dependent nephrotic syndrome following renal transplantation for congenital nephrotic syndrome

A boy developed recurrent steroid-responsive nephrotic syndrome following renal transplantation for congenital nephrotic syndrome. The first episode was associated with mild tubulointerstitial rejection on kidney biopsy. Subsequent episodes showed normal histology by light microscopy and epithelial foot process fusion on electron microscopy, consistent with minimal change nephrotic syndrome. Serum analysis for soluble immune response suppressor was negative pre-nephrectomy, positive during each bout of nephrotic syndrome, and negative during each remission. This case represent de novo occurrence of steroid-sensitive minimal change nephrotic syndrome following renal transplantation for congenital nephrotic syndrome. We stress the need for histological examination of the renal allograft to diagnose rejection, recurrent disease, or de novo disease.     

Treatment of steroid-resistant post-transplant nephrotic syndrome with cyclophosphamide in a child with congenital nephrotic syndrome

A child with congenital nephrotic syndrome underwent renal transplantation, was treated for acute rejection, and then developed nephrotic syndrome and renal failure. He was felt to have minimal change disease on allograft biopsy, but failed to respond to therapy with corticosteroids. Cyclophosphamide was substituted for cyclosporine and rapidly induced a complete remission of his nephrotic syndrome. We feel that this case not only represents an important example of a useful therapeutic approach to the child with congenital nephrotic syndrome who develops nephrotic syndrome post transplantation, and also raises questions concerning the pathogenesis of congenital nephrotic syndrome.     

Management of congenital nephrotic syndrome

We reviewed the medical records of seven children with congenital nephrotic syndrome (CNS) treated by unilateral nephrectomy, captopril, and indomethacin since 1990. Clinical response to the treatment was analyzed using the Students' t-test. After a median period of 54 months (range 36-88 months) follow-up, five patients were alive at a median age of 74 (range 43-88) months. Median (range) plasma albumin rose from 11 (6-17) g/l at the start of treatment to 18 (15-22) g/l and 21 (18-25) g/l after 6 and 12 months treatment, respectively ( P=0.001 and P=0.0006). Albumin infusions per patient per month decreased from 7 (0-18) to 0 (0-30) in the 6 months post treatment ( P=0.017). The median (range) height standard deviation scores at 12 months and 30 months from onset of treatment were -1.56 (-2.96 to 0.41) and -1.43 (-2.40 to 0.90), respectively. In conclusion, management of CNS with captopril and indomethacin therapy in combination with unilateral nephrectomy achieves significant improvements in plasma albumin and reduces the need for albumin infusions and time in hospital, while growth is maintained. Second nephrectomy, dialysis, and transplantation can be delayed until the 3rd year of life or longer.     

Cytomegalovirus-related congenital nephrotic syndrome with diffuse mesangial sclerosis

This case report describes congenital nephrotic syndrome in a 2-month-old girl associated with cytomegalovirus infection. Histological examination on renal biopsy showed diffuse mesangial sclerosis and cytomegalic inclusion bodies in the tubular cells and in some glomeruli. Cytomegalovirus (CMV) polymerase chain reaction (PCR) titer in serum was high. Remission of pulmonary and renal symptoms was achieved with ganciclovir in 3 weeks. No recurrence of proteinuria was observed during the follow-up period of 14 months. These finding suggested a causal relationship between congenital nephrotic syndrome and cytomegalovirus infection.