1/27. 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) |
2/27. Lymphangiomyomatosis: radiological and measured lung function deterioration after contrast-enhanced computed tomography.Pulmonary lymphangiomyomatosis (LAM) is a rare disease of unknown aetiology which occurs exclusively in women, usually of reproductive age. The findings on CT and high-resolution CT (HRCT) are well described and characteristic, and in a young woman they are virtually pathognomonic. A case of symptomatic, radiological and measured lung function deterioration following contrast-enhanced CT in a patient with LAM are reported here. These observations, to the authors' knowledge, have never been reported before. The authors attempt to explain these observations based on the known pathology of LAM.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/27. A case of ileocolic intussusception from renal cell carcinoma.We report a case of ileal metastasis of renal cell carcinoma (RCC) in a 58-year-old male. The patient had a history of radical nephrectomy for a right RCC, and 2 years later underwent bilateral partial pneumonectomy for metastatic disease of the lung. A period of 1 year after the partial pneumonectomy, he developed bloody stools. colonoscopy revealed an ileocolic intussusception caused by a polypoid tumor in the ileum, and the tumor was observed to be protruding into the ascending colon. The histological features of the tumor biopsy specimen confirmed the diagnosis of metastatic RCC. Metastasis of RCC in the small bowel is a rare disease clinically. To our knowledge, this is the first reported case with ileal metastasis of RCC, which has been definitively diagnosed by colonoscopy.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/27. An unusual renal tumour.Primary renal lymphoma is a rare disease. The basis for diagnosis of this entity has been described and its existence is widely accepted. Localized deposition of amyloid is also a rare phenomenon. A case of primary lymphoma with localized amyloid deposition is reported here.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/27. Primary renal lymphoma does exist: case report and review of the literature.Primary renal lymphoma (PRL) is a controversial and rare disease and there is still no agreement on its existence. Many cases have been reported in the literature, but clear diagnostic criteria have not yet been established. Most of the reported cases are questionable because of incomplete staging or the presence of extrarenal disease. Here we report a new case and a review of the literature based on a critical examination of the diagnostic procedure. Thus, probably only 29 cases, ours included, should be recognized as PRL, because only these cases fulfil the three diagnostic criteria and underwent complete diagnostic screening, including renal biopsy, bone marrow biopsy and thoraco-abdominal computerised tomography (CT).- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/27. Renal and pulmonary lymphangioleiomyomatosis: a case report.lymphangioleiomyomatosis (LAM) is a rare disease that most commonly involves the lung. However, extrapulmonary lymphangioleiomyomatosis rarely occurs with or without subsequent involvement of the lung. We report a case of incidentally found renal and pulmonary lymphangioleiomyomatosis in a patient who had no stigmata of tuberous sclerosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/27. An unusual primary renal lymphoma.A case of primary renal lymphoma (PRL) in a 78-year-old man is reported. The tumor was found by computed tomography during a check-up for hematuria and weight loss. Histologic and immunohistochemical analyses of this tumor revealed features typical of low-grade lymphoma with localized amyloid deposition. PRL is a rare disease and only a few cases have been reported previously. To our knowledge, there have been no other reports of PRL with localized amyloid deposition.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/27. Primary anaplastic large cell lymphoma of the kidney.Primary renal lymphoma is a rare disease. There is still no agreement on its development primarily in this non-lymphoid organ. Some of the reported cases are questionable because of the incomplete staging of extrarenal disease. In the present study, we describe a rare case of a 73-year-old white man presenting with right flank pain. physical examination did not reveal any peripheral lymphadenopathy or hepatosplenomegaly. An abdominal computerized tomography (CT) showed a large tumor in the right kidney with no enlarged liver, spleen or lymph nodes. On morphological and immunohistochemical examination, the tumor fulfilled the criteria of anaplastic large cell lymphoma (ALCL). A review of the literature revealed that this is the first reported case of primary ALCL of the kidney.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/27. carcinoid tumor of the kidney presenting as a large abdominal mass: report of a case.Carcinoid tumors are known to occur frequently in the gastrointestinal tract and they can develop in nearly every organ system. However, a carcinoid tumor of the kidney is an extremely rare entity and only 38 cases have been reported in the English literature. We herein describe the 39th case of primary renal carcinoid tumor, found in a young Japanese woman 2 months after delivery. The pathologic similarities of our case with those of previously reported cases are briefly reviewed together with some aspects of clinical features and prognostic factors of this rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/27. Presentation of telangiectasia macularis eruptiva perstans as a long-standing solitary plaque associated with renal carcinoma.BACKGROUND: mastocytosis is a rare disease characterized by a primary pathological increase in mast cells in different tissues. The skin is the most frequently affected organ. Cutaneous mastocytosis, including urticaria pigmentosa, solitary mastocytoma, diffuse cutaneous mastocytosis, and telangiectasia macularis eruptiva perstans (TMEP), is usually distinguished from systemic mastocytosis. TMEP is characterized mainly by telangiectatic macules. OBJECTIVE AND methods: We report a case of TMEP with an unusual clinical presentation as a solitary plaque of telangiectatic macules. A renal clear cell carcinoma was detected in a workup for systemic mastocytosis. We discuss the clinical and histological findings and treatment of TMEP. CONCLUSIONS: TMEP is a rare form of mastocytosis, which occurs mainly in adults, generally has a good prognosis, and little tendency to urticate or show constitutional symptoms. Clinicians should consider this disorder when confronted with a progressive atypical telangiectatic lesion. However, the malignant neoplasm also found in this patient is of uncertain significance.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
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