1/47. Discordant evolution of asymptomatic proteinuria in identical twins.We describe a pair of 17-year-old identical twin brothers with asymptomatic proteinuria, one of whom showed focal segmental glomerulosclerosis (FSGS) while the other showed immunoglobulin m (IgM) nephropathy. For each twin, audiological examination was normal. There was no family history of renal failure, deafness, or hematuria. HLA typing revealed an identical phenotype consisting of A25, A33, B44, B54, Cw1, Cw7, DR7 and DRB1. There is still controversy about whether minimal change disease, IgM nephropathy, and FSGS are discrete entities or different aspects of the same disease. The coexistence of IgM nephropathy and FSGS in identical twins suggests that the same genetic factors may be involved in the development of both diseases. However, although the brothers are identical twins, they had different eating habits and body weight. The twin who preferred to eat a protein-rich diet and who was heavier developed early proteinuria and manifested FSGS on renal biopsy. The discordant evolution of asymptomatic proteinuria in identical twins may provide a clue for the existence of environmental factors on the progression from IgM nephropathy to FSGS. Therefore, this report provides indirect support for the hypothesis that IgM nephropathy and FSGS represent different aspects in the spectrum of a single disease.- - - - - - - - - - ranking = 1keywords = dent (Clic here for more details about this article) |
2/47. Focal segmental glomerulosclerosis in a 32-year-old kidney allograft after 7 years without immunosuppression.In kidney allografts, focal segmental glomerulosclerosis (FSGS) has been described as recurrent, de novo, or a histological variant of chronic transplant glomerulopathy. We describe a unique case of de novo FSGS in a renal transplant not accompanied by any feature of rejection in a patient who had not been immunosuppressed for several years. A 58-year-old woman received a histoidentical living-related kidney transplant for end-stage renal disease due to chronic pyelonephritis. Twenty-four years after the transplant she voluntarily discontinued all immunosuppressive medication. Seven years later she presented with nephrotic syndrome, mild renal failure, and positive serology for hepatitis C virus (HCV) antibody. The kidney transplant biopsy disclosed de novo FSGS. Features of acute or chronic rejection, including chronic transplant glomerulopathy, were not seen. The pathogenesis of this lesion is probably related to sustained and prolonged glomerular hyperfiltration; alternatively, HCV infection may have triggered or accelerated the appearance of FSGS.- - - - - - - - - - ranking = 0.11111111111111keywords = dent (Clic here for more details about this article) |
3/47. Renal complications in patients with diabetes mellitus associated with an A to G mutation of mitochondrial dna at the 3243 position of leucine tRNA.The substitution of guanine for adenine at position 3243 of the leucine tRNA gene of mitochondrial dna was originally described in association with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). diabetes mellitus associated with the mutation (mitochondrial diabetes) is a different phenotype from MELAS. We identified 11 patients with the mutation among 385 Japanese diabetic patients: two had MELAS and nine had mitochondrial diabetes. We present data on a male patient with mitochondrial diabetes who developed the nephrotic syndrome at the age of 23. light microscopy revealed mesangial expansion, PAS-positive deposits and segmental sclerosis in the glomeruli. Scattered mesangial electron-dense deposits and thickening of the basement membrane were found on electron microscopy, suggesting that diabetic glomerulosclerosis accompanied by focal glomerulosclerosis (FGS). Mitochondrial diabetes may pre-dispose patients to renal complications, including forms of glomerulonephritis, such as FGS.- - - - - - - - - - ranking = 0.11111111111111keywords = dent (Clic here for more details about this article) |
4/47. Development of focal segmental glomerulosclerosis in the renal allograft of a patient with lupus.Nephritis has been a recognized complication of systemic lupus erythematosus since the early 1900s. Almost all lupus patients have some degree of renal involvement related to their condition, but a considerably smaller proportion of these patients actually progress to end-stage renal disease (ESRD). However, lupus patients are also susceptible to other primary renal insults that may significantly contribute to the deterioration in their renal function. We present a case of a patient with clinical and pathological evidence of lupus nephritis that progressed to ESRD and subsequently developed "recurrent" focal segmental glomerulosclerosis in her transplant kidney. Retrospective clinicopathologic correlation suggested the possibility of more than 1 primary renal process that eventually led to her dialysis-dependent state. This case illustrates the importance of meticulously examining both clinical and renal biopsy data in patients with lupus nephritis and considering the presence of co-existing renal pathologies to resolve an otherwise discordant picture of disease progression. These considerations may have important therapeutic and prognostic implications.- - - - - - - - - - ranking = 0.11111111111111keywords = dent (Clic here for more details about this article) |
5/47. frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female.The description of frasier syndrome until now has been restricted to XY females with gonadal dysgenesis, progressive glomerulopathy, and a significant risk of gonadoblastoma. Mutations in the donor splice site in intron 9 of the Wilms' tumor (WT1) gene have been shown to cause frasier syndrome and are distinct from WT1 exon mutations associated with denys-drash syndrome. The WT1 gene, which is essential for normal kidney and gonadal development, encodes a zinc finger transcription factor. The intron 9 alternative splice donor site mutation seen in frasier syndrome leads to loss of three amino acids ( KTS isoform), thus disrupting the normal ratio of the KTS/-KTS isoforms critical for proper gonadal and renal development. This study examines two sisters with identical intron 9 mutations. The proband carries a classic diagnosis of frasier syndrome with 46,XY gonadal dysgenesis, whereas her sister has progressive glomerulopathy but a 46,XX karyotype and normal female development. This indicates that the proper WT1 isoform ratio is critical for renal and testicular development, but apparently does not affect either ovarian development or function. It is proposed that the clinical definition of frasier syndrome should be broadened to include 46,XX females with normal genital development and focal segmental glomerulosclerosis associated with a WT1 intron 9 donor splice site mutation. Nephrologists need to consider the possibility of this heritable syndrome in evaluation of females with focal segmental glomerulosclerosis and to consider their risk for gonadal malignancy, as well as the risk for kidney disease, gonadal dysgenesis, and malignancy in their offspring.- - - - - - - - - - ranking = 0.11111111111111keywords = dent (Clic here for more details about this article) |
6/47. Nodular glomerulosclerosis secondary to mu heavy chain deposits.mu heavy chain deposition disease is very rare. We report the first case of glomerulonephritis in a woman without evidence of hematopoietic malignancy. Nodular glomerulosclerosis and monotypic mu heavy chain mesangial deposits were identified by immunofluorescence without kappa or lambda deposits. Electron microscopy showed fibrillar mesangial deposits of 16-18 nm in diameter. Serum immunoglobulins, cryoglobulins, serum immunoelectrophoresis, and immunofixation, bone marrow biopsy, and Bence Jones proteins in urine were negative. The patient has stable renal disease and is free of malignancy 6 years after the initial occurrence of proteinuria.- - - - - - - - - - ranking = 0.11111111111111keywords = dent (Clic here for more details about this article) |
7/47. Recurrent focal segmental glomerulosclerosis in grafts treated with plasma exchange and increased immunosuppression.We report on three children with severe, recurrent focal segmental glomeruloscerosis (FSGS) in their first allografts, treated with methylprednisolone, plasma exchange and cyclophosphamide. This protocol is based on a previous publication showing its successful use in three children. Our patients were 2 girls and 1 boy, aged 14.5, 14.6 and 13.2 years, respectively, at transplant. Concomitant immunosuppression included cyclosporin A and prednisolone. recurrence occurred in all three patients within 24 h, and specific treatment was commenced within 48 h. All patients developed anuria and were dialysed. The boy stopped dialysis after 4 weeks, and has stable chronic renal failure (CRF) and no proteinuria 3 years later. One girl required dialysis for 4 months, and 3 years later has CRF with non-nephrotic range proteinuria. The other girl remained dialysis-dependent and died from septic complications. We conclude that even anuric patients treated with this protocol may have an improvement in renal function and reduction of proteinuria, which can last for over 3 years. However, treatment may need to be prolonged and carries the substantial risks of heavy immunosuppression.- - - - - - - - - - ranking = 0.11111111111111keywords = dent (Clic here for more details about this article) |
8/47. Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa.We report the occurrence of congenital nephrotic-range proteinuria secondary to focal segmental glomerulosclerosis in an infant with epidermolysis bullosa and pyloric atresia. A homozygous missense mutation, R1281W, in exon 31 of the beta4 integrin gene, ITGB4, was identified. By immunofluorescence, beta4 integrin expression was reduced in both dermal keratinocytes and glomerular podocytes. This is the first demonstration of beta4 integrin expression in human glomeruli. We postulate a role for altered beta4 integrin function in the mediation of the glomerular permeability defect.- - - - - - - - - - ranking = 0.11111111111111keywords = dent (Clic here for more details about this article) |
9/47. Familial nephropathy differing from minimal change nephropathy and focal glomerulosclerosis.BACKGROUND: nephrotic syndrome in childhood is mainly due to minimal change nephropathy. In general, it is characterized by selective proteinuria, by steroid responsiveness, and histologically by podocytic foot process effacement. Familial presentation is rare and mainly restricted to one generation. methods: We describe the occurrence of a familial nephropathy in a mother and two daughters. An initial diagnosis of minimal change nephropathy was made, but subsequently unique features became apparent. During follow-up, detailed studies of renal function and urinary protein excretion were performed. Available frozen renal biopsy material was revised and processed for immunofluorescence to detect abnormalities in the expression of heparan sulfate proteoglycans. The latter results were compared with renal biopsies of a control group composed of five adult patients with minimal change nephropathy. RESULTS: The mother and two daughters were proteinuric since their early childhood. The mother revealed a persistent nephrotic syndrome for more than 20 years despite treatment with various immunosuppressive drugs. Likewise, treatment with prednisone was ineffective in the daughters. All three patients retained normal renal function during follow-up. Detailed measurements revealed that the proteinuria was incredibly selective (selectivity index approximately 0.01), and there was no evidence of tubulointerstitial damage, as reflected by a normal excretion of the low-molecular weight proteins beta(2)-microglobulin and alpha1-microglobulin. Renal biopsy performed in the mother and one daughter was thought to be compatible with minimal change nephropathy. However, histologically, two remarkable findings were made. By electron microscopy, there was no evidence of foot process retraction; specifically, the foot process width and slit pore diameter were normal. Furthermore, in contrast to the control patients, the expression of heparan sulfate polysaccharide side chains, as reflected by the staining with monoclonal antibody JM403, was normal. CONCLUSIONS: We propose that this family represents a new familial nephropathy. The molecular basis of the permeability defect remains to be identified.- - - - - - - - - - ranking = 0.11111111111111keywords = dent (Clic here for more details about this article) |
10/47. proteinuria and focal segmental glomerulosclerosis in severely obese adolescents.OBJECTIVE: To describe the clinical and laboratory features of obesity associated proteinuria and focal segmental glomerulosclerosis. STUDY DESIGN: The patients were seen over a 12-year period at two large children's hospitals. Renal biopsies, performed for the diagnosis of unexplained heavy proteinuria and prepared for light, immunofluorescent, and electron microscopy, were read independently by two pediatric pathologists. blood pressure, body mass index, serum levels of creatinine, albumin, and cholesterol, and 24-hour urinary protein were measured. RESULTS: Seven African American adolescents were identified with obesity-associated proteinuria, which was characterized by severe obesity (120 /- 30 kg), markedly elevated body mass index (46 /- 11), mild hypertension (134/74 /- 10/18 mm Hg), slightly low to normal serum albumin levels (3.6 /- 0.2 g/dL), moderately elevated serum cholesterol levels (196 /- 60 mg/dL), and elevated 24-hour protein excretion (3.1 /- 1.3 g/dL). Calculated creatinine clearance was normal in 6 patients and decreased in one. Typical renal histologic features included glomerular hypertrophy, focal segmental glomerulosclerosis, increased mesangial matrix and cellularity, relative preservation of foot process morphology, and absence of evidence of inflammatory or immune-mediated pathogenesis. One patient showed a dramatic reduction in proteinuria in response to weight reduction. Three patients who were given angiotensin-converting enzyme inhibitors had reduced urinary protein losses from 2.9 g to 0.7 g per day. One patient developed end-stage renal disease. CONCLUSION: Obese adolescents should be monitored for proteinuria, which has distinct clinical and pathologic features and may be associated with significant renal sequelae. Such proteinuria may respond to weight reduction and/or treatment with angiotensin-converting enzyme inhibitors.- - - - - - - - - - ranking = 0.22222222222222keywords = dent (Clic here for more details about this article) |
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