Fibronectin glomerulopathy with nephrotic syndrome in a 3-year-old male

Familial non-immune-mediated glomerulopathy has recently been recognized as a distinct clinical entity. The presentation includes proteinuria, often in the nephrotic range, microscopic hematuria, and hypertension. Renal function may remain intact long term, or may progress slowly to renal failure. A 3-year-old boy was referred with proteinuria (>8 g/day), microscopic hematuria, and hypertension (184/150 mmHg). Renal function was intact. Diagnostic evaluation uncovered no evidence of systemic disease. A renal biopsy specimen showed no immune deposits in the glomeruli, but fibronectin deposits were detected in the peripheral loop and mesangium by immunofluorescence. The basement membrane was intact. Twelve other family members subsequently were found to have some renal pathology. Renal function was preserved during 7 years of follow-up. The pathogenesis of fibronectin glomerulopathy is discussed. Received: 06 April 2001 / Revised: 13 December 2001 / Accepted: 13 December 2001     

Wilms tumor and nephrotic syndrome in male pseudohermaphroditism

A case is reported of a child with male pseudohermaphroditism in whom Wilms tumor developed at age twenty-two months. The tumor was treated accordingly, but the child subsequently died of nephrotic syndrome with renal failure at age thirty-two months. After reviewing the similar concurrence of these disorders described as a syndrome, it was suggested that they may have basic embryologic abnormalities in common and that all of them originate during embryogenesis. The importance of bearing this syndrome in mind in the management of a child with abnormal gonadal differentiation is stressed.     

Asymptomatic right atrial thrombus in a case of nephrotic syndrome

Hypercoagulable state in nephrotic syndrome can be complicated by thrombosis in unusual sites. We describe the case of a steroid-responsive nephrotic syndrome in an adult patient complicated by isolated thrombus in the right atrium which was completely asymptomatic. The patient was treated with steroids, anticoagulation and excision of the intracardiac thrombus with complete resolution. The case is presented in view of its rarity and to highlight the importance of routine echocardiography in all cases of nephrotic syndrome.     

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.     

Congenital microcephaly and infantile nephrotic syndrome — a case report

A 22-month-old girl with nephrotic syndrome and microcephaly is described. The had dismorphic facies and psychomotor retardation. Her parents were first-degree relatives and one of her siblings had died with nephrotic syndrome and renal failure in infancy. An autosomal recessive inheritance is suggested. The diagnosis of this rare combination is discussed and the relevent literature is reviewed.     

Electron microscopic studies in a long-term follow-up of a case of congenital nephrotic syndrome

A boy presenting with a severe congenital nephrotic syndrome diagnosed by histological analysis at the age of 3 weeks was biopsied again 7 years later. The ultrastructural glomerular basement membrane abnormalities depicted in the first biopsy were no longer present in the second one. The number of completely hyalinized glomeruli was not significantly decreased. The GFR remained normal, but a moderate persistent, non-selective proteinuria (800 mg/24 h) was noted without oedema. The patient however developed a progressive perceptive deficit of hearing.     

Application of metabolomics in establishing primary nephrotic syndrome diagnosis model

Objective To establish diagnosis model and explore related metabolic pathways by analyzing the serum metabolic profile of patients with primary nephrotic syndrome (PNS) through metabolomics. Methods Thirty PNS patients hospitalized in Huai'an First People's Hospital between December 2010 and April 2012 were enrolled. High performance liquid chromatography-mass spectrometry (LC-MS) was employed to detect metabolites in the serum of 30 PNS patients and 30 healthy controls. Metabolic fingerprint profiling and multivariate pattern recognition analysis were combined to establish disease-specific metabolic diagnosis model, and metabolic pathway analysis was performed. Results PNS group and control group could be well separated by principal component analysis (PCA) model as well as partial least-squares discriminant analysis (PLS-DA) model with Q2 of 0.300. There was well interpretation in PLA-DA model (R2X=0.581,R2Y=0.452). Compared with healthy controls,PNS patients had decreased cholestane 3, 7, 12, 15 alcohol, acyl glycerine, phytosphingosine and tryptophan, and increased sphingomyelin, arginine and glutamic acid (all VIP＞1, P＜0.05). The metabolic disorders pathways of PNS patients included sphingolipid metabolism, arginine and proline metabolism, linoleic acid metabolism and pyrimidine metabolism (all impact＞0.10 and P＜0.05). Conclusions Metabolomics combined with multivariate pattern recognition analysis may be a new tool for diagnosis and monitoring of PNS.     

An unusual case of nephrotic syndrome and glucosuria

We report a case of a 57-year-old man with hypertension and smoking history who presented with decreased glomerular filtration rate, nephrotic-range proteinuria, and persistent glucosuria. He underwent a kidney biopsy that showed nodular glomerulosclerosis. We discuss the clinicopathologic entities of idiopathic nodular glomerulosclerosis and primary renal glucosuria.     

Alport-like glomerular changes in a patient with nephrotic syndrome: report of a case

We report a 17-year-old Saudi girl who presented with nephrotic syndrome at the age of 7 years. A renal biopsy revealed a mildly proliferative immune complex-mediated glomerulonephritis, which on ultrastructural examination revealed prominent thickening of the capillary basement membranes, along with marked splitting and lamellation of lamina densa resembling those seen in Alport syndrome. These changes were even more pronounced in renal biopsies performed 1 and 3 years later, respectively. Thorough clinical evaluations and follow-up of more than 10 years failed to reveal any evidence of Alport syndrome. Review of the literature revealed four similar cases reported previously. Diffuse and prominent Alport-like glomerular changes may rarely be seen in patients with nephrotic syndrome in the absence of Alport syndrome. Pathogenesis of these changes, however, remains to be understood.     

Rare case of a large tumour of the breast area in 41-year-old male

Aim-Background

Tumours of the anterior thoracic wall and especially of the breast area mainly concern mammary gland tumours. Other breast neoplasms usually arise from the soft tissues of the area. A review of the literature identified only a few series reporting mesenchymal neoplasms in the anterior thoracic wall. The aim of this study is to present the case of a mesenchymal tumour of the breast area in a male patient; its large size, one of the largest reported in the literature, and its unusual location and histology are of particular interest. We also review the relative literature.

Case Report

A 41-year-old man, without any health problems, noticed a small firm tumour in the area of his right breast which had gradually enlarged over the past year. Preliminary diagnostic studies (fine needle aspiration biopsy, core biopsy) showed atypical mesenchymal elements that suggested malignancy. The patient underwent a wide surgical excision of the tumour.

Results

The tumour was located between the major and minor thoracic muscles, and measured 12 cms in its greatest diameter. Histologically, it proved to be a cellular and atypical neurofibroma. These tumours usually arise in neurofibromatosis; the solitary variant, such as our case, is very rare. Total surgical removal is the treatment of choice.     

46,XX男性性反转综合征1例的基因检测

目的探讨46，XX男性性反转综合征的临床表现及诊治要点。方法回顾分析1例46，XX男性性反转综合征患者的临床表现、激素水平及核型分析结果，并采用聚合酶链反应（PCR）及荧光原位杂交技术（FISH）对其Y染色体上的性别决定区（SRY）基因进行检测。结果通过PCR扩增检测发现患者SRY基因阳性，但FISH显示其SRY基因易位于X染色体上。结论SRY基因是参与性别决定和分化的关键基因，对其进行检测有利于明确性反转综合征的临床诊断。SRY基因易位于X染色体或其他常染色体是导致性反转综合征的重要原因之一。