1/77. Heavy chain deposition disease: the disease spectrum.A 45-year-old white woman was found to have microscopic hematuria during her annual physical examination. After a negative urologic workup, she returned 5 months later with nephrotic syndrome, renal insufficiency, and hypocomplementemia. Renal biopsy showed a nodular sclerosing glomerulopathy that could not be further characterized because of inadequate tissue for immunofluorescence. The patient returned 8 months later with chronic renal failure. A repeat renal biopsy showed deposits composed of immunoglobulin g (IgG) heavy chain and complement components C3 and C1 along glomerular, tubular, and vascular basement membranes, with negativity for kappa and lambda light chains, findings consistent with heavy chain deposition disease (HCDD). The heavy chain subclass was exclusively IgG3. Staining with monoclonal antibodies to epitopes of the constant domains of IgG heavy chain showed a CH1 deletion, indicating a truncated heavy chain. On review of the previously reported cases of HCDD, common clinical presentations include nephrotic syndrome, renal insufficiency, hematuria, and, in some cases, hypocomplementemia. In most patients, the hematologic disorder is mild, without overt myeloma. light microscopy shows a nodular sclerosing glomerulopathy, and heavy chain deposits are detectable within basement membranes throughout the kidney by immunofluorescence and electron microscopy. There is no effective treatment for this condition, and virtually all patients progress to chronic renal failure.- - - - - - - - - - ranking = 1keywords = nephrotic syndrome (Clic here for more details about this article) |
2/77. nephrotic syndrome and end-stage renal disease with WT1 mutation detected at 3 years.We report a boy who presented at 3 years with nephrotic syndrome and end-stage renal failure. Although histopathological findings showed end-stage kidney, isolated diffuse mesangial sclerosis (IDMS) was suspected because of his clinical course, and was confirmed by the presence of WT1 (wilms tumor suppressor gene) mutation. He did not have ambiguous genitalia or wilms tumor. The karyotype was 46:XY. A constitutional mutation in exon 7 (953G-->A, 312Arg-->Gin) was detected. A few cases of male IDMS, associated with WT1 mutations, have been reported. We believe that investigation for the WT1 mutation should be performed not only in denys-drash syndrome and IDMS, but also in end-stage renal disease with unexplained nephrotic syndrome of early onset. WT1 mutation-associated nephrotic syndrome has an increased risk of wilms tumor. Careful ultrasound evaluations or bilateral nephrectomies are indicated.- - - - - - - - - - ranking = 1keywords = nephrotic syndrome (Clic here for more details about this article) |
3/77. Secondary (AA-type) amyloidosis in patients with polymyalgia rheumatica.Several cases of systemic amyloidosis associated with polymyalgia rheumatica (PMR) or giant-cell arteritis (GCA) have been described. Nevertheless, the type of amyloid deposit has not been characterized in most of them. Here we report on two patients with PMR (one with associated GCA) who developed nephrotic syndrome and end-stage renal failure caused by massive amyloid deposition. Immunohistochemical analysis showed that the amyloid deposits were of AA type (secondary amyloidosis) in both cases.- - - - - - - - - - ranking = 0.5keywords = nephrotic syndrome (Clic here for more details about this article) |
4/77. carbon disulfide nephropathy.A 45-year-old nondiabetic man presented with features resembling diabetic triopathy. He worked in a rayon manufacturing plant and was exposed to toxic levels of carbon disulfide (CS(2)). Clinical abnormalities included peripheral and central nervous system abnormalities as well as retinopathy, dyslipidemia, cardiovascular disease, and nephrotic syndrome. He later developed focal sclerosing glomerulonephritis. The latter has not previously been described in cases of CS(2) exposure. Terminally, he developed end-stage renal disease and progressive dementia, both of which were thought to be consequences of CS(2) exposure earlier in life.- - - - - - - - - - ranking = 0.5keywords = nephrotic syndrome (Clic here for more details about this article) |
5/77. AL-amyloidosis of the kidney initially presenting as minimal change glomerulonephritis.Small amounts of amyloid in kidney biopsy specimens may be missed on routine examination unless specifically targeted. Occasionally, this oversight results in a diagnosis of minimal change glomerulonephritis (MCGN). This misdiagnosis may be facilitated by the fact that typical "minimal changes" with flattening and effacement of the epithelial foot processes can be found in capillary loops directly affected by amyloid deposition as well as in capillary loops of glomeruli with only mild amyloid deposition in the mesangium. Repeatedly, the diagnosis of MCGN had to be corrected to renal amyloidosis when re-examination by special techniques succeeded in detecting even small amounts of amyloid fibrils. We present the case of a previously healthy 49-year-old man who suddenly developed nephrotic syndrome. A first renal biopsy showed MCGN. proteinuria remained refractory to immunosuppressive treatments, and creatinine clearance deteriorated rapidly. Two years later, a repeat renal biopsy showed AL-amyloidosis. In this case, re-examination of the first biopsy in the light of the final diagnosis again did not show any deposition of amyloid fibrils. We suspect that proteinuria and epithelial podocyte changes in amyloidosis are caused by factors other than deposition of amyloid fibrils itself. Possibly a cytokine release during the early fibril formation leads to abnormalities even before the typical structural changes of renal amyloidosis can be detected. This is analogous to the hypothesis of a circulating factor that leads to proteinuria in focal segmental glomerulosclerosis or the speculation of altered lymphokine expression associated with the development of MCGN in Hodgkin's disease.- - - - - - - - - - ranking = 0.5keywords = nephrotic syndrome (Clic here for more details about this article) |
6/77. Hemolytic uremic syndrome associated with denys-drash syndrome.The denys-drash syndrome is defined by the occurrence of combinations of pseudohermaphroditism, nephrotic syndrome with diffuse mesangial sclerosis, Wilms' tumor, and constitutional mutations in the WT1 suppressor gene. Most patients develop end-stage renal failure. Atypical hemolytic uremic syndrome (HUS) is defined by onset of acute hemolytic anemia with fragmented erythrocytes, thrombocytopenia, and renal failure in the absence of a gastrointestinal prodromal illness of bloody diarrhea. The purpose of this report is to describe the occurrence of features of atypical HUS and denys-drash syndrome in two African-American boys aged 13 and 16 months. Each had nephrotic syndrome, diffuse mesangial sclerosis, and WT1 point mutations. Both had grade III hypospadias and undescended testes. They had normal serum creatinine concentrations and hematology a month before presenting with HUS. Stool cultures for escherichia coli o157:H7 were negative. Each patient has been transplanted with cadaver kidneys without recurrence of HUS.- - - - - - - - - - ranking = 1keywords = nephrotic syndrome (Clic here for more details about this article) |
7/77. Purtscher-like retinopathy in nephrotic syndrome associated with mild chronic renal failure.A sudden loss of vision attributable to Purtscher-like retinopathy occurred in a 4-year-old boy with focal segmental glomerulosclerosis and nephrotic syndrome as well as mild chronic renal failure. This retinopathy was bilateral. After treatment with intravenous methylprednisolone, infusion of 20% albumin, and low molecular weight heparin (nadroparin calcium), his visual acuity improved within 3 days. Ischemic retinal blanching and hemorrhages gradually disappeared. The pathogenesis of this disorder is unknown.- - - - - - - - - - ranking = 2.5keywords = nephrotic syndrome (Clic here for more details about this article) |
8/77. Steroid-sensitive anemia in a boy on dialysis--an association with Kimura disease.The cause of hypereosinophilia (EO) in hemodialysis (HD) patients is multifactorial and is felt to be a benign laboratory abnormality related to dialysis or uremia. Kimura disease (KD) is an angiolymphoid proliferative disorder of unknown etiology. Many cases are associated with nephrotic syndrome in children; however, it has seldom been reported in children on dialysis. We report here a 13-year-old boy who developed persistent EO and subsequent anemia after maintenance HD; he later developed KD. The atypical clinical manifestation of KD and its relationship to HD and erythropoietin hyposensitive anemia in this patient are discussed.- - - - - - - - - - ranking = 0.5keywords = nephrotic syndrome (Clic here for more details about this article) |
9/77. Systemic amyloidosis associated with hepatocellular carcinoma. Case report and literature review.We describe the case of a male patient with biopsy-proven non-resectable liver adenoma at age 32 who presented 17 years later with hepatocellular carcinoma and nephrotic syndrome. autopsy demonstrated systemic amyloidosis A. review of the medical literature disclosed only three previous published cases of liver tumors associated with systemic amyloidosis. The association of non-hematologic neoplasias with systemic amyloidosis is rare and our literature review revealed only three cases of systemic amyloidosis in patients with liver tumors. We present here the case of a patient with apparent transition of liver adenoma to hepatocellular carcinoma with associated systemic amyloidosis.- - - - - - - - - - ranking = 0.5keywords = nephrotic syndrome (Clic here for more details about this article) |
10/77. Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease.A 6 year old boy who presented with steroid unresponsive nephrotic syndrome is reported. He was found to have focal segmental glomerulosclerosis and associated hypoparathyroidism and sensorineural deafness. The child progressed to end stage renal failure and was successfully managed by dialysis and cadaveric renal transplantation. He later developed progressive neurological deterioration and mitochondrial myopathy and neuropathy was diagnosed.- - - - - - - - - - ranking = 0.5keywords = nephrotic syndrome (Clic here for more details about this article) |
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