1/25. Renal failure resulting from infiltration by inflammatory myofibroblastic tumor responsive to corticosteroid therapy.Inflammatory myofibroblastic tumor (IMT) is a rare disease of inflammatory and spindle cell proliferative lesions in multiple sites. Most frequently reported in the lungs, a variety of extrapulmonary sites have been described. We report the first case of IMT causing renal failure by massive bilateral renal infiltration. Renal function continued to deteriorate (peak serum creatinine level, 8.4 mg/dL) despite placement of a ureteral stent. The kidneys were diffusely enlarged on computed tomographic (CT) scan. Renal biopsy showed myofibroblastic proliferation and inflammatory infiltration. Renal failure responded favorably over weeks to corticosteroid therapy (serum creatinine level, 2.8 mg/dL) with a marked reduction in bilateral renal enlargement by CT scan.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/25. Concomitant renal and prostatic aspergillosis.aspergillosis limited to the urinary tract is a rare disease seen most often in patients with altered immune status. Only 19 cases of renal aspergillosis including 3 with AIDS and 4 cases of isolated prostatic aspergillosis have been reported. We report the first case of concomitant renal and prostatic aspergillosis in a non-immunocompromised patient who presented with pyrexia of unknown origin and with dysuria. The diagnosis was based on the demonstration of characteristic hyphal elements on direct microscopy and isolation of the fungus in the culture of pus from the kidney. In view of obstructive prostatic enlargement and left non-functioning renal mass, transurethral resection of the prostate and left nephrectomy were performed in a single session with successful outcome. The aetiopathogenesis and brief review of the literature are discussed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/25. 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 = 1keywords = rare disease (Clic here for more details about this article) |
4/25. Primary renal and retroperitoneal actinomycosis.A case of the rare condition of renal and retroperitoneal actinomycosis is presented. The clinical and imaging (ultrasonography and computed tomography) findings are described and attention is drawn to the diagnostic difficulties in this rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/25. Cyclic neutropenia complicated by renal AA amyloidosis.Cyclic neutropenia is a rare disease characterized by regular cyclic fluctuations in the numbers of neutrophils. patients with the disease suffer from recurrent infections at regular intervals of nearly three weeks. Recently, recombinant human granulocyte colony-stimulating factor (rhG-CSF) was reported to be an effective treatment for this disease. here we describe 17-year-old cyclic neutropenic female patient with a very rare association of renal amyloidosis of AA type who was under intermittent rhG-CSF treatment for the previous one and a half years. We conclude that although the disorder is usually benign, reactive amyloidosis may rarely develop in cases who remain untreated for a long period of time. However familial mediterranean fever (FMF) type II should also be born in mind, particularly in predisposed populations.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/25. Renal involvement by Rosai-Dorfman disease: CT findings.Rosai-Dorfman disease is a rare disease characterized histologically by proliferation of histiocytes and has clinical features suggestive of a lymphomalike disease. lymph nodes and extranodal sites might be involved, but renal involvement is rare. We present computed tomographic findings in three cases of renal involvement by Rosai-Dorfman disease. Two cases showed renal hilar masses and one case showed subcapsular hypodense infiltration. Renal involvement by Rosai-Dorfman disease has a characteristic appearance and should be included in the differential diagnosis of renal hilar masses or subcapsular hypodense infiltration.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/25. Malakoplakia of the kidney--a case report.Malakoplakia is a rare disease expressed as a special type of inflammatory reaction to infection with various bacteria and fungi. We present a case of renal malakoplakia in a 30-year-old female patient. The symptoms were not characteristic enough for making the ture diagnosis preoperatively. A preoperative diagnosis of renal cell carcinoma was made in this case.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/25. Bilateral emphysematous pyelonephritis combined with subcapsular hematoma and disseminated necrotizing fasciitis.Emphysematous pyelonephritis (EPN) is a rapidly progressive and potentially life-threatening necrotizing infection of the renal parenchyma characterized by the presence of gas. Bilateral EPN is a rare disease process with a high mortality rate. Bleeding associated with EPN is an extremely rare complication. Necrotizing fasciitis is a rare but serous condition with a poor prognosis. Herein we present a rare case of bilateral EPN combined with subcapsular hematomas which progressed to the development of disseminated necrotizing fasciitis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/25. Lipoprotein glomerulopathy associated with psoriasis vulgaris: report of 2 cases with apolipoprotein e3/3.Lipoprotein glomerulopathy (LPG) is a rare disease, characterized by a special histology, including dilated glomerular capillaries filled with pale-stained and meshlike lipoprotein thrombi. It always presents with proteinuria or nephrotic syndrome. Although hyperlipidemia is not always seen, most patients have type III hyperlipoproteinemia with apolipoprotein (apo) E2/3 phenotyping. Although the clinical feature of LPG is rarely described, LPG associated with other glomerulopathy, including IgA nephropathy, membranous nephropathy, and lupus nephritis, has been documented. Until now, there have been no reports of psoriasis vulgaris associated with LPG. The authors present 2 cases of LPG with apo E3/3 genotyping associated with psoriasis vulgaris. The first patient was a 65-year-old woman who presented with nephrotic syndrome with daily urinary protein loss of 9.05 g and itchy erythematous scaly plaques on her trunk and lower limbs for 1 year. The renal biopsy results showed LPG, and the skin biopsy results showed psoriasis. The second patient was a 50-year-old man with history of psoriasis over his trunk and 4 limbs for 30 years. He also presented with nephrotic syndrome with daily urinary protein loss of 7.55 g. The renal biopsy results also showed LPG. The genotype of apo E showed E3/3, and lipoprotein electrophoresis showed a type III hyperlipoproteinemia-like pattern in both cases. The authors suggest that presence of apo E3/3 genotype cannot rule out the diagnosis of type III hyperlipoproteinemia and LPG. Besides, LPG should be included in the differential diagnosis of psoriatic patients with nephrotic syndrome, especially in Asian patients who show poor response to traditional therapy. Renal biopsy should be performed to make the definitive diagnosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/25. Emphysematous perinephric abscess without diabetes or urinary obstruction.Emphysematous pyelonephritis is a rare disease seen usually in patients with diabetes mellitus or obstructive uropathy. We report a case of emphysematous pyelonephritis in a male who had no evidence of diabetes or obstructive uropathy. Such an occurrence of emphysematous pyelonephritis without diabetes or obstructive uropathy is very rare. The patient was managed with antibiotics, supportive measures and surgical drainage and he recovered completely.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
| | Next -> |