1/118. Pathogenic role of glomerulo-tubular junction stenosis in glomerulocystic disease.Glomerulocystic disease is an uncommon cystic renal condition characterized by cystic dilatation forming a glomerular cyst. The pathogenesis of this familial disease is unknown. We performed a serial section study using a biopsy specimen of a 16-year old female patient with glomerular cystic disease who had a family history of end stage renal failure. A total of 14 different glomeruli were analyzed, four of which exhibited a cystic appearance. Five glomerulotubular junctions were observed by serial sections, two of which had a stenotic appearance where glomerular cystic changes and periglomerular fibrosis were observed concomitantly. There were no such cystic glomerular changes in the other three glomeruli with non-stenotic glomerulo-tubular junctions. These findings suggest that the glomerular cystic lesion develops as a consequence of glomerulo-tubular junctional stenosis probably caused by periglomerular fibrosis.- - - - - - - - - - ranking = 1keywords = end stage, end, stage (Clic here for more details about this article) |
2/118. dialysis-associated renal cystic disease resembling autosomal dominant polycystic kidney disease: a report of two cases.Acquired renal cystic disease is common in patients receiving dialysis. Characteristically, the kidneys are small or, less often, normal in size, and the cysts are usually less than 0.6 cm in diameter. We present here 2 patients who, after 5 and 7 years on hemodialysis, developed marked renal enlargement, with large cysts in the kidneys and, in 1 patient, in the liver as well; the appearance on ultrasonography and computed tomography was indistinguishable from autosomal dominant polycystic kidney disease. Before starting dialysis the first patient was a 19-year-old man who developed renal shutdown from crescentic glomerulonephritis, and the second patient was a 33-year-old man who developed end-stage renal failure from malignant hypertension. Neither patient had renal cysts at the onset of end-stage renal failure.- - - - - - - - - - ranking = 0.0013589570731773keywords = liver, end, stage (Clic here for more details about this article) |
3/118. A neurodegenerative disorder with early myoclonic encephalopathy, retinal pigmentary degeneration and nephronophthisis.A female case of developmental arrest, early-onset seizures, retinal pigmentary degeneration, progressive central nervous symptoms and peripheral neuropathy, associated with progressive renal dysfunction, anemia and nephrotic syndrome, was presented. Her epileptic syndrome was possibly an early myoclonic encephalopathy, though neonatal seizures were not evident. Serial cranial MRIs showed progressive brain atrophy and a white matter change. Neuropathological examination revealed a neurodegenerative disease mainly involving the white matter with olivopontocerebellar degeneration. She also had the nephronophthisis-medullary cystic disease complex and an early stage of focal segmental glomerulosclerosis. Her grandaunts had renal diseases, one of whom died of renal failure in adolescence, and her father showed cerebellar symptoms since the middle age. All possible metabolic studies were negative. This case is similar to Senior-Loken syndrome, but distinct in terms of the severe and progressive neurological symptoms, suggestive of a new malignant syndrome with some inherent metabolic derangement affecting both the nervous system and the kidneys.- - - - - - - - - - ranking = 0.00018446712677446keywords = stage (Clic here for more details about this article) |
4/118. Obstructive airway disease caused by moraxella catarrhalis after renal transplantation.We report a case of severe acute obstructive airway disease 2 months after renal transplantation in a 16-year-old patient with Biedl-Bardet syndrome who was transplanted for end-stage renal failure secondary to cystic kidney disease. Symptoms of severe obstructive airway disease developed 2 months after transplantation under immunosuppression with prednisone, azathioprine, and tacrolimus. The patient did not develop signs of infection; progressive shortness of breath remained the only symptom for several weeks. After extensive diagnostic evaluation, bronchoalveolar lavage revealed moraxella catarrhalis as the single infectious agent. After 3 weeks of appropriate antibiotic therapy, symptoms of obstructive airway disease were completely relieved. This atypical presentation of moraxella infection in an immunocompromised host represents a rare complication of renal transplantation, especially in young patients. Special aspects such as frequency, diagnosis, differential diagnosis, and management of this rare complication of renal transplantation in a pediatric patient are discussed.- - - - - - - - - - ranking = 0.000437794174652keywords = end, stage (Clic here for more details about this article) |
5/118. Renal cystic disease associated with tuberous sclerosis complex: renal failure treated by cadaveric kidney transplantation.Chronic renal failure in patients with tuberous sclerosis may be secondary to diffuse cystic disease, a lesion less common than the better known hamartomatous angiomyolipomas. uremia, in the case of a nineteen-year old female with end-stage renal disease, was associated with severely atrophic kidneys that contained numerous collapsed and scarred cysts. No hamartomas were present. The patient survived for more than three years following cadaveric renal transplantation.- - - - - - - - - - ranking = 0.000437794174652keywords = end, stage (Clic here for more details about this article) |
6/118. Renal oncocytoma in acquired renal cystic disease.Renal oncocytoma is a rare benign tumor of the kidney that accounts for about 5% of renal tumors. Acquired renal cystic disease (ARCD) is commonly seen in dialyzed patients. However, the occurrence of renal oncocytoma in ARCD has rarely been reported. We report such a case in a 67-year-old man who had hypertension-associated end-stage renal disease and had received regular hemodialysis for 5 years. Radiologic diagnostic studies demonstrated a renal mass in the left atrophic cystic kidney that increased in size from 2 cm to 4 cm during 2 years of follow-up. Under the diagnosis of renal cell carcinoma, he received left radical nephrectomy. The pathologic examination revealed renal oncocytoma with a well-cirumscribed, homogenous, mahogany-brown tumor on a background of ARCD. Although patients with ARCD have a higher incidence of renal malignancies, renal oncocytoma may occur in these patients and may be managed conservatively.- - - - - - - - - - ranking = 0.000437794174652keywords = end, stage (Clic here for more details about this article) |
7/118. A spectrum of renal tubular ectasia and hepatic fibrosis.Renal tubular cystic disease and hepatic fibrosis exhibit a specific genetic pattern and pathological findings. The renal collecting tubules are dilated and the liver shows fibrosis with proliferation and dilatation of the bile ducts. The findings fall into a spectrum with marked renal disease and mild liver involvement at one end and mild renal involvement with severe liver disease at the other. Between these extremes lies an intermediate form which is genetically and pathologically similar, but exhibits a wide range of clinical and radiological findings due to the variability of renal and liver involvement.- - - - - - - - - - ranking = 0.0021868019433709keywords = liver, end (Clic here for more details about this article) |
8/118. Spontaneously ruptured multilocular cystic nephroma.Multilocular cystic nephroma is a relatively rare benign tumor of the kidney. An adult case of spontaneously ruptured multilocular cystic nephroma was reported. A 33-year-old woman who presented with a right flank colic attack. The preoperative diagnosis was spontaneously ruptured renal tumor. A right nephrectomy was performed. A multilocular cystic lesion, 10 cm in diameter, was found in the removed specimen, which had a hematoma inside and direct tumor extension into the renal pelvis. On microscopic examination, the surface of loculi was covered by a layer of hobnail epithelium, and septa were composed of fibrous tissue with dilated vessels, lacking in normal renal components. There were no signs of malignancy. The lesion extending into the renal pelvis showed the same microscopic findings. The final diagnosis was multilocular cystic nephroma. Two respects, spontaneous rupture and tumor extension into the renal pelvis, were unique to the present case. There has been no report of spontaneously ruptured mutilocular cystic nephroma. The tumor extension into the renal pelvis, however, has been found in several reports. This growth pattern might be one of the characteristics of this benign renal tumor.- - - - - - - - - - ranking = 0.00025332704787753keywords = end (Clic here for more details about this article) |
9/118. Meckel Gruber syndrome: a first trimester diagnosis of a recurrent case.We report of a case of Meckel Gruber Syndrome (MGS) in a woman, who suffered previously from a pregnancy with the same disorder. MGS, consisting of an occipital encephalocele, bilateral cystic kidneys and postaxial polydactyly, is a rare autosomal recessive disorder, with a recurrence risk of 25%. With the present technology, a targeted ultrasound in the late embryonic or early fetal stages of pregnancy has the potential to diagnose this syndrome. Clinical screening in further pregnancies is of utmost importance and the management of such cases is presented.- - - - - - - - - - ranking = 0.00018446712677446keywords = stage (Clic here for more details about this article) |
10/118. Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement.BACKGROUND: Mutations in the hepatocyte nuclear factor (HNF)-1beta gene (TCF2) are responsible for a syndrome characterized by maturity-onset diabetes of the young, a nondiabetic renal disease, genital malformations, and liver dysfunction. methods: The HNF-1beta gene was screened for mutations in four members of an Italian family with early-onset, nonketotic diabetes or a familiar, nondiabetic renal disease and nonprogressive liver disorder. RESULTS: The genetic analysis revealed an already described nonsense mutation in codon 177 of HNF-1beta gene (R177X) in the four related subjects. Clinical features included diabetes in three of four patients, monolateral renal hypoplasia with cysts in the controlateral kidney in two patients, and bilaterally small hyperechoic kidneys without cysts in the other two patients. Renal function impairment was severe in one patient, requiring dialysis treatment, and mild in three. Three patients had nonprogressive liver dysfunction, with long-lasting enzyme alterations but no liver insufficiency or jaundice. CONCLUSION: HNF-1beta gene mutations are associated with a wide variability in severity and pattern of clinical symptoms within the same kindred regarding diabetes and renal impairment. Moderate liver dysfunction may be a so far overlooked component of the syndrome.- - - - - - - - - - ranking = 0.0043503185148602keywords = liver (Clic here for more details about this article) |
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