1/210. The same mutation affecting the splicing of WT1 gene is present on frasier syndrome patients with or without Wilms' tumor.Denys-Drash and Frasier syndromes are rare human disorders that associate nephropathy with gonadal and genital abnormalities. In DDS there is a predisposition to Wilms' tumor. Heterozygous point mutations in the Wilms' tumor, type1 gene (WT1), particularly those altering the zinc finger (ZF) encoding exons, have been reported in most DDS patients, while mutations in intron 9 of the same gene cause FS. This paper describes two cases of DDS, one FS and one patient with Wilm's tumor and intersex genitalia, in which mutations were searched by sequencing the exons 8 and 9 of WT1 gene. Patient 1 carried a missense point mutation in exon 8 (ZF2), converting a CGA-Arg codon to a TGA-stop codon. Patient 2 presented a single nucleotide deletion within exon 9 (ZF3) introducing a premature chain termination at codon 398. patients 3 and 4 had a C-->T transition at position 4 of the second alternative splice donor site of exon 9 (this mutation was detected in peripheral blood and in tumor derived dna of patient 3). However, patient 3 had previously developed a Wilms' tumor. This is the first case of Wilms' tumor development in a phenotypically and genetically confirmed case of FS.- - - - - - - - - - ranking = 1keywords = nephropathy (Clic here for more details about this article) |
2/210. Autosomal dominant polycystic kidney disease associated with familial sensorineural deafness.Autosomal dominant polycystic kidney disease (ADPKD) is characterized by both renal and non-renal disorders. Extrarenal involvement includes noncystic manifestations such as cardiovascular abnormalities, colonic diverticula and intracranial aneurysms. Familial sensorineural hearing loss (SNHL) has been included in the definition of Alport's syndrome. However, other types of nephropathy have been occasionally associated with hereditary deafness. The association of ADPKD with hereditary SNHL has not been previously documented. We report a family with ADPKD associated with bilateral sensorineural deafness in a pedigree of four affected members in four generations.- - - - - - - - - - ranking = 1keywords = nephropathy (Clic here for more details about this article) |
3/210. Crescentic glomerulonephritis in hyper IgD syndrome.The hyperimmunoglobulinemia D syndrome (HIDS) is a well-defined entity resembling familial mediterranean fever. HIDS is a systemic inflammatory disease associated with stimulation of T-cell-mediated immunity. These patients are at low risk for amyloidosis and are not known to develop nephropathy. We report a boy of Mediterranean ancestry who exhibited typical HIDS and end-stage renal failure. kidney biopsy revealed pauci-immune crescentic glomerulonephritis (cGN). We hypothesized that the glomerular involvement was secondary to the cytokine network activation observed in HIDS. Thus, cGN should be considered as part of the syndrome, and kidney biopsy should be performed early in the course of the renal disease in patients with HIDS.- - - - - - - - - - ranking = 1keywords = nephropathy (Clic here for more details about this article) |
4/210. A stormy transplant case with happy ending.A 12-year-old female patient with end-stage renal failure whose primary disease was reflux nephropathy, was first admitted for augmentation cystoplasty by using an ileum segment because of contracted urinary bladder. Four months later, she had a renal transplantation from her father on March 28th 1997. The first three days after the operation were uneventful. On the fourth day, she presented a severe rejection episode and was treated with steroid and ATG. A urinary fistula developed and she underwent surgery again on the 14th postoperative day. At surgery, apical resection omentoplasty nephrostomy DJ replacement were performed. The postoperative period after the second operation was full of problems for both the patient and the transplantation team. She was discharged from hospital on the 40th postoperative day with excellent renal function (a serum creatinine level of 1 mg/dl) and with full recovery.- - - - - - - - - - ranking = 1keywords = nephropathy (Clic here for more details about this article) |
5/210. Renal transplantation for end-stage renal disease following bone marrow transplantation: a report of six cases, with and without immunosuppression.BACKGROUND. Over 12000 bone marrow transplantations (BMT) are performed in the USA each year. This procedure is associated with significant morbidity including acute and chronic renal failure (CRF). CRF after BMT is usually secondary to radiation nephropathy and,or cyclosporine (CsA) toxicity. survival on dialysis therapy for patients with radiation nephropathy is poor and renal transplantation may be a preferable form of renal-replacement therapy. methods: We report our experience with renal transplantation in 6 patients with end-stage renal disease (ESRD) following BMT: 4 as a result of radiation nephropathy; one secondary to hemolytic uremic syndrome; and 1 as a result of antitubular basement membrane nephritis. Ages at the time of BMT ranged from 26 to 40 yr. ESRD developed after a mean period of 94 months (range 42-140 months) after BMT. The kidney source was from a living donor in 5 patients, and a cadaveric donor (CAD) in 1 patient. In 3 recipients, the bone marrow and kidney were from the same donor. They are managed without any immunosuppressive therapy. The other 3 were initiated on triple therapy (prednisone, mycophenolate mofetil/azathioprine and cyclosporine/tacrolimus). RESULTS: These patients have been followed for up to 31 months (range 3-30 months) after kidney transplant, and 5 out of 6 are alive with functioning bone marrow and renal transplants. Their plasma creatinines range from 70 to 160 micromol/L (mean 97 micromol/L). One patient died following metastatic squamous cell cancer of the genital tract. CONCLUSIONS: 1) Renal transplant is a feasible alternative for patients with ESRD following BMT: 2) if bone marrow and kidney are from the same donor, the recipient requires little or no maintenance immunosuppression; 3) short-term results show good survival, but long-term follow-up is needed: 4) infections and malignancy post-renal transplantation were seen in recipients who needed immunosuppression; and 5) reduction in immunosuppression may be needed in such post-BMT patients who undergo kidney transplants.- - - - - - - - - - ranking = 3keywords = nephropathy (Clic here for more details about this article) |
6/210. Encephalopathy after bladder irrigation with alum: case report and literature review.A 70-year-old man with advanced obstructive nephropathy began to hemorrhage from the bladder after decompression with a Foley catheter. Manifestations of encephalopathy appeared after continuous irrigation with 1% alum for 2 days and were associated with elevated serum aluminum concentrations. Repeated treatments with deferoxamine and hemodialysis accomplished some aluminum removal, but the patient succumbed to bronchopneumonia. brain aluminum content was not excessive at autopsy. A literature review suggests that intact renal function is essential to rapid disposal of a parenteral aluminum load and indicates that most reported instances of encephalopathy after alum irrigation have occurred in patients with compromised renal function. We conclude that alum should not be employed as a bladder irrigant in patients with acute or chronic renal failure.- - - - - - - - - - ranking = 1keywords = nephropathy (Clic here for more details about this article) |
7/210. Antihypertensive therapy in renal patients - benefits and difficulties.High blood pressure values, diastolic and systolic, are associated with decreased renal function. This is particularly true when the diastolic blood pressure is higher than 90 mm Hg. Several studies showed that lowering of the blood pressure within the range of normotension according to the WHO causes a reduction in the rate of progression to terminal renal failure. These studies have led to recommendations to aim at a target blood pressure of approximately 125/75 mm Hg in the treatment of patients with glomerular diseases and particularly diabetic nephropathy with proteinuria >1 g/day. In contrast to these results, blood pressure values corresponding to the recommendation (patients only. It has also been shown that at any given level of an average 24-hour blood pressure, patients with an insufficient decrease of the blood pressure during nighttime have a higher risk to progress to terminal renal failure. Thus it is very important to lower the nighttime blood pressure and to detect nighttime blood pressure increases using ambulatory blood pressure measurements.- - - - - - - - - - ranking = 1keywords = nephropathy (Clic here for more details about this article) |
8/210. Desensitization to allopurinol in a patient with previous failed desensitization.OBJECTIVE: To describe an allopurinol desensitization that failed on the first attempt but was successful on the second attempt, resulting in the management of crippling tophaceous gout. CASE SUMMARY: A 64-year-old white man with a history of gouty nephropathy requiring hemodialysis developed a severe cutaneous reaction from exposure to allopurinol. The first desensitization attempt was unsuccessful, and the gouty nephropathy caused chronic cellulitus and urate microcrystal deposition on the patient's hands and feet. Continuous ambulatory peritoneal dialysis and hemodialysis were used to treat the patient's severe symptoms and increase uric acid clearance. This method, however, was ineffective. Severe tissue ischemia, requiring bilateral below-the-knee amputations, prompted the second desensitization attempt four years later. The second attempt, administered differently and with more caution, was successful and did not cause further complications. DISCUSSION: allopurinol is the only agent available to effectively reduce uric acid concentrations in those who are over-producers. hypersensitivity-type reactions have been reported with its use, and desensitization is the only viable therapeutic option. Few cases of desensitization to allopurinol have been reported in the literature. This article describes a failure and a subsequent success in desensitization to allopurinol. CONCLUSIONS: Although desensitization to allopurinol poses potential risks, the benefits can outweigh the risks of therapy. Desensitization requires close monitoring; if failure does occur, subsequent attempts can be successful, as this case report demonstrates.- - - - - - - - - - ranking = 2keywords = nephropathy (Clic here for more details about this article) |
9/210. A case of factor viii inhibitor-positive acquired hemophilia treated by plasmapheresis.We report on a case of factor viii inhibitor-positive acquired hemophilia in which combined therapy of plasma exchange (PE) and steroids was effective. The patient, a 68-year-old man, had undergone hemodialysis since April 1998, due to chronic renal failure caused by diabetic nephropathy. The hemostasis of blood access sites gradually became difficult after the initiation of dialysis and the prolongation of activated partial thromboplastin time (APTT) (74.5 s), and a decrease in factor viii (0.02%) and an abnormally high concentration of factor viii inhibitor (111 U/ml) were found. Under the diagnosis of factor viii inhibitor-positive acquired hemophilia, 3 consecutive PE were performed, followed by a large dose administration of gamma globulin. However, the effect of this therapy disappeared within 20 days. Then the PE therapy was performed again accompanied by pulse methylprednisolone therapy. After that, factor viii inhibitor was suppressed and the patient's hemostatic defect continued to improve even after the reduction of the steroid dose. These results suggest that PE is very effective in treating factor viii inhibitor-positive acquired hemophilia.- - - - - - - - - - ranking = 1keywords = nephropathy (Clic here for more details about this article) |
10/210. plasmapheresis for crescentic IgA nephropathy: a report of two cases and review of the literature.Idiopathic IgA nephropathy is widely regarded as a slowly progressive disease that not infrequently results in end-stage renal failure. Only a minority of patients present with either a rapidly progressive form of glomerulonephritis, or with end-stage renal failure. Anecdotal reports of improved renal function after treatment with plasmapheresis have been published, but the efficacy of this therapy remains controversial. We describe the course of two young males presenting with uremia, hypertension, nephrotic-range proteinuria, and crescentic glomerulonephritis on renal biopsy. Both patients underwent therapy with steroids, immunosuppressive agents, and plasmapheresis without an appreciable improvement in renal function. A review of the literature does not offer any conclusive data to support the role of plasmapheresis in the treatment of rapidly progressive glomerulonephritis due to IgA nephropathy and points out the need to define criteria that may identify subsets of patients with this disorder who may potentially benefit from plasma exchange therapy. J. Clin. Apheresis 14:185-187, 1999. Published 1999 Wiley-Liss, Inc.- - - - - - - - - - ranking = 6keywords = nephropathy (Clic here for more details about this article) |
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