1/249. fibrinogen A alpha chain mutation (Arg554 Leu) associated with hereditary renal amyloidosis in a French family.A French family with hereditary renal amyloidosis (HRA) was studied. The disease presented in 7 of the 8 affected individuals with proteinuria or the nephrotic syndrome. The age of onset was in the fifth decade of life. There is currently no sign of extrarenal involvement in any affected individual. However, the nephropathy in this family is progressive and led to terminal renal failure in 4 patients. immunohistochemistry studies of glomerular amyloid deposits suggested that the amyloid protein was the fibrinogen A alpha chain. Direct dna sequencing revealed a G 4993 T transversion and subsequently Arg 554 Leu mutation in the fibrinogen A alpha chain. This is the first description of this fibrinogen A alpha chain mutation in europe. This family is of French descent and cannot be related to the previously reported Peruvian/Mexican and African-American kindreds.- - - - - - - - - - ranking = 1keywords = nephropathy (Clic here for more details about this article) |
2/249. gold nephropathy in juvenile rheumatoid arthritis.A 2-year-old girl was treated with gold salts for juvenile rheumatoid arthritis. Treatment had to be discontinued when persistent proteinuria was detected. As this case report indicates, close monitoring of the urine is mandatory during treatment with gold salts to detect early signs of toxicity: hematuria followed by casts and then proteinuria as therapy is continued. Histologic examination with electron microscopy will help to differentiate the different forms of gold toxicity. When the findings are consistent with gold-induced renal involvement, therapy should be discontinued. The gold nephropathy usually resolves in time, with no permanent renal damage.- - - - - - - - - - ranking = 5keywords = nephropathy (Clic here for more details about this article) |
3/249. Leukemic urate nephropathy.The tubules appear to be the primary sites of injury in renal failure and urate nephropathy associated with leukemia. Tubular injury is not always associated with precipitation and phagocytosis of crystals, except in the collecting tubules where cellular changes are invariably caused by intraluminal crystallization of urates. The electron microscopical observations in this communication may apply to the urate nephropathy associated with hyperuricemia of various causes.- - - - - - - - - - ranking = 6keywords = nephropathy (Clic here for more details about this article) |
4/249. Transcriptional regulation of PDGF-A and TGF-beta by KTS WT1 deletion mutants and a mutant mimicking denys-drash syndrome.denys-drash syndrome (DDS) and frasier syndrome (FS) are rare diseases caused by the mutations of wilms tumor gene, WT1. The common denominator in these syndromes is a nephropathy which is manifested by early-onset proteinuria, nephrotic syndrome and end stage renal failure. Although these syndromes are genetic models of nephropathy and the mutations of WT1 gene are characterized in these patients the mechanism how mutations of WT1 gene affect the embryonic kidney adversely has not been elucidated. Recently, there was a report that FS is caused by mutations in the donor splice site of WT1. These mutations predicted loss of KTS isoform, which is one of the four splicing variants of WT1. In this study, two KTS deletion mutants of WT1 were made as well as a WT1 mutant mimicking a mutation found in a patient who had diffuse mesangial sclerosis, end stage renal failure and wilms tumor. Mutant embryonic kidney cell lines were established by transfection of 293 embryonic kidney cells with WT1 mutants. We investigated the transcription regulation of mutant WT1 among these cell lines using the reporter vectors containing PDGF-A and TGF-beta promoter sequence. Our results showed that the promoter activity of PDGF-A and TGF-beta, which are related to the progression of glomerular diseases, was modestly increased in the mutant cell mimicking the patent, while those activities were markedly increased in other two deletion mutant cell lines. This study demonstrated that KTS WT1 mutation found in DDS affected the cytokine expression adversely in vitro. From these results, we suggest that the alteration of KTS WT1 expression be responsible for the rapid progression of renal diseases in DDS and FS.- - - - - - - - - - ranking = 2keywords = nephropathy (Clic here for more details about this article) |
5/249. Coexistence of thin membrane and alport nephropathies in families with haematuria.The finding of familial haematuria without a history of deafness or renal impairment is often assumed to indicate a benign prognosis. However, we describe three families in whom Alport and thin basement membrane nephropathy were separately identified within the same pedigree. Our findings illustrate the importance of fully investigating families with haematuria, even if thin basement nephropathy has been diagnosed in one member.- - - - - - - - - - ranking = 2keywords = nephropathy (Clic here for more details about this article) |
6/249. Renal allograft dysfunction associated with rifampin-tacrolimus interaction.OBJECTIVE: To report an interaction between tacrolimus and rifampin with subsequent adverse effects on renal allograft function. CASE SUMMARY: A 61-year-old Chinese man received a cadaveric renal transplant in 1991. Progressive deterioration of allograft function developed during the following six years while the patient was receiving cyclosporine and prednisolone. In January 1998, tacrolimus was substituted for cyclosporine for late biopsy-proven graft rejection, with target trough blood concentrations between 5 and 8 ng/mL. After conversion, serum creatinine fell to 2.0 mg/dL; the nadir was reached within one year. At the same time, rifampin was instituted for controlling tuberculosis and empiric fluconazole was discontinued. Twelve days later, the patient's serum creatinine concentration rose to 2.9 mg/dL and tacrolimus concentration fell to 1.5 ng/mL, along with oliguria. These findings suggested acute rejection, which was successfully reversed by steroid therapy. However, more than a tenfold increase in the tacrolimus dosage was required to maintain the same concentrations during subsequent months, accompanied by an increase in serum creatinine (from 2.0 to 2.6 mg/dL) and decrease in urine excretion. biopsy at this time demonstrated acute rejection (Banff I), chronic allograft nephropathy (Banff II), and suspected tacrolimus nephrotoxicity. After unsuccessful methylprednisolone recycling, mycophenolate mofetil was introduced to control rejection and facilitate reduction of the tacrolimus dosage to minimize its nephrotoxicity. CONCLUSIONS: As a potent CYP3A4 isoenzyme inducer, rifampin coadministration caused the abrupt decrease in tacroiimus blood concentrations, leading to an approximate tenfold increase in its daily dose, which may be important to subsequent allograft dysfunctions.- - - - - - - - - - ranking = 1keywords = nephropathy (Clic here for more details about this article) |
7/249. Disappearance of nodular mesangial lesions in a patient with light chain nephropathy after long-term chemotherapy.A 64-year-old man developed multiple myeloma (kappa light chain type), nephrotic syndrome, and renal insufficiency in 1993. A renal biopsy showed typical histological findings of light chain nephropathy: nodular glomerulosclerosis with deposition of kappa light chains in the mesangial area and subendothelial space of the glomerular capillary walls. Long-term intermittent MEVP chemotherapy (melphalan, 4 mg/d for 4 days; cyclophosphamide, 100 mg/d for 4 days; vincristine, 1 mg/d; prednisolone, 40 mg/d for 4 days) diminished proteinuria and improved renal function. In April 1999, a follow-up biopsy showed remarkable diminution of nodular lesions and disappearance of kappa light chain deposits. Although the prognosis of light chain nephropathy has been considered poor, long-term successful chemotherapy can clear light chain deposits and restore renal function.- - - - - - - - - - ranking = 6keywords = nephropathy (Clic here for more details about this article) |
8/249. Familial nephropathy associated with hepatic type of glycogen storage disease.The female patient was diagnosed as having Von Gierke's disease at 14 years of age, based on clinical manifestations, laboratory examination and liver biopsy. At 19 years of age she had uremia and died from its deterioration at 24 years of age. The parents were consanguineous, and a 27-year-old sister is presently hospitalized for renal insufficiency with hepatomegaly. On autopsy, the patient's kidneys were highly contracted and contained a number of small cysts, mainly in the medulla. Histological examination indicated periglomerular fibrosis, glomerular hyalinization, tubular atrophy or cystic dilatation and intersitial fibrosis with round cell infiltration. These findings correspond to Fanconi's familial juvenile nephronophthisis, except for age. The liver was markedly enlarged and indicated severe, glycogen deposits, but the kidney did not contain glycogen deposits. It can, therefore, be presumed that the renal lesions were not a secondary consequence of long-term glycogen deposits but that renal and hepatic lesions were associated with each other.- - - - - - - - - - ranking = 4keywords = nephropathy (Clic here for more details about this article) |
9/249. Renal amyloidosis as a first manifestation of familial mediterranean fever.Amyloid nephropathy was the presenting symptom in a case of familial mediterranean fever (FMF). As recent progress in molecular pathology permits the detection of asymptomatic FMF individuals, it is suggested that relevant cases of renal amyloidosis should be tested for FMF mutations.- - - - - - - - - - ranking = 1keywords = nephropathy (Clic here for more details about this article) |
10/249. Idiopathic multicentric osteolysis with nephropathy.Idiopathic multicentric osteolysis is a rare syndrome that manifests with progressive loss of carpal and tarsal bones in childhood. Affected children have arthritic-like episodes, followed by progressive deformities, radiographic osteolytic changes, and variable degrees of disability. A rare form of this disease (type III, sporadic) is associated with serious nephropathy. We present the first reported case of type III idiopathic multicentric osteolysis in a Chinese woman. The patient, a 34-year-old woman with normal mental development and no family history of bone or kidney disease, presented with a 4-day history of nausea and vomiting. She had shortening and swelling of the hands, which had occurred in childhood and persisted at the time of admission. X-ray studies showed disappearance of the carpal bones, and multiple osseous erosions of the tarsal bones. hypertension, severe azotemia, and metabolic acidosis were also noted. Advanced renal disease was documented after a series of investigations, including renal biopsy. She is now dialysis-dependent. This case illustrates the importance of early diagnosis and management of idiopathic multicentric osteolysis with nephropathy.- - - - - - - - - - ranking = 6keywords = nephropathy (Clic here for more details about this article) |
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