Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033687 (proteinuria)
 24,015 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Focal segmental glomerulosclerosis (FSGS) may recur following transplantation. Approximately half of the patients with recurrent FSGS lose their grafts. We report a case of a 54-year-old woman with focal segmental glomerulosclerosis (FSGS). She underwent live-related donor kidney transplantation from her 21-year-old son and immunosuppression was maintained with tacrolimus, mycophenolate mofetil and steroids. Eight months after transplantation, the patient presented with increasing lower limbs edema and heavy proteinuria. Allograft biopsy contained 20 glomeruli of which four were totally sclerosed, seven were segmentally sclerotic, and the rest were non-sclerotic, relatively enlarged glomeruli compatible with recurrent FSGS in the graft. Plasmapheresis over a two week period with simultaneous oral cyclophosphamide resulted in a partial response of proteinuria from 12 to 2.2 g/24 hrs over 5 weeks.
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PMID:Recurrence of focal segmental glomerulosclerosis after renal transplantation: a case report. 1723 99

Focal segmental glomerulosclerosis (FSGS) may be idiopathic or secondary to a variety of causes. Clinical distinction between primary and secondary forms of FSGS has crucial therapeutic consequences. Whereas the former may respond to immunosuppressive therapy, treatment of secondary forms of FSGS must aim to resolve the underlying diseases. Although the combination of nephrotic syndrome and Cushing's syndrome has been described anecdotally, the causal relationship between these two diseases remains controversial. We report herein a 37-year-old man who presented with lower extremity pitting edema. Heavy proteinuria and mild renal insufficiency prompted to perform a kidney biopsy and the specimen showed FSGS. On the other hand, admission physical examination was notable for a Cushingoid appearance. After endocrinological investigations, the patient was diagnosed as having Cushing's disease caused by pituitary adrenocorticotropic hormone-producing microadenoma. Immunosuppressive therapy for the treatment of FSGS was not carried out and we treated his Cushing's disease with transsphenoidal resection of the pituitary microadenoma. Surprisingly, resolution of heavy proteinuria occurred when the patient's physical features characteristic of Cushing's disease were gradually resolved 3 months later. This case suggests a possible association of Cushing's disease with FSGS.
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PMID:Focal segmental glomerulosclerosis in association with Cushing's disease. 1733 31

Focal segmental glomerulosclerosis is a form of chronic kidney disease that causes 3.6% of end stage renal disease cases. While the cause of this disease is multifactoral, the Human Genome Project has identified some specific chromosome sites linked to this disease process. Treatment for focal segmental glomerulosclerosis may include corticosteroids, managing hypertension, and controlling proteinuria. This article discusses the pathophysiology of focal segmental glomerulosclerosis, treatments, and resources for patient and professional education.
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PMID:Focal segmental glomerulosclerosis: a case study with review of pathophysiology. 1748 48

Despite existence of broad spectrum of medicine for treatment of childhood nephrotic syndrome, treatment efficiency of childhood nephrotic syndrome is not satisfactory yet. The aim of the study was investigation of clinical and histological changes during treatment of childhood nephrotic syndrome. Patients from the control group were treated with steroids according to ISKDC regimen and those of the study group-- with "long alternate day" regimen of steroids. Efficacy of the treatment was assessed by the relapse rate, rate of ESKD, glomerular filtration rate, proteinuria severity. The results showed a low relapse rate, ESKD, FSGS and proteinuria in the study group. Thus, long alternate day steroid regimen can reduce the number of relapses and improve outcomes in children with nephrotic syndrome by reducing transformation of histological pattern of NS to FSGS.
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PMID:[Current aspects of transformation of morphological changes in children with nephrotic syndrome depending on the treatment regimen]. 1758 Mar 88

Familial hypercholesterolemia (FH) is a common autosomal dominant inherited disorder characterized by increased levels of circulating plasma low-density lipoprotein cholesterol (LDL-C), tendon xanthomas, and premature atherosclerotic cardiovascular disease. Homozygous FH occurs in only one in a million people. Focal segmental glomerulosclerosis (FSGS) is clinically characterized by proteinuria, which is marked in the majority of cases and accompanied by nephrotic syndrome, high incidence of hypertension, and progression to renal failure. To our knowledge, we herein report for the first time a case of homozygous FH associated with FSGS. A seven-and-a-half-year-old boy was referred to our hospital due to cutaneous xanthomata and growth retardation. He had multiple nodular yellowish cutaneous xanthomatous lesions each 1 cm in size over his knees and sacral region. Laboratory data included cholesterol level of 1,050 mg/dl, low density lipoprotein cholesterol (LDL-C) 951 mg/dl, high-density lipoprotein cholesterol (HDL-C) 29 mg/dl, triglycerides 168 mg/dl, total protein 6.3 g/dl, and albumin 3.2 g/dl. Urinary protein excretion was 78 mg/m(2) per hour. A percutaneous renal biopsy was performed, and histological findings showed FSGS. Treatment with cholestyramine and atorvastatin was unsuccessful in terms of lowering lipids, and he was placed on weekly sessions of plasmapheresis. Total cholesterol was reduced from 1,050 mg/dl to 223 mg/dl, LDL-C from 951 mg/dl to 171 mg/dl, and urinary protein excretion from 78 mg/m(2) per hour to 42 mg/m(2) per hour after eight sessions of plasmapheresis. It is our belief that plasmapheresis is a treatment of choice in patients with FSGS associated with FH.
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PMID:A case of homozygous familial hypercholesterolemia with focal segmental glomerulosclerosis. 1763 41

Glomerular diseases continue to be the leading cause of end-stage renal disease globally. Hence, it is important to recognize the pattern of these diseases in any given geographical area. A total of 498 renal biopsies performed on patients with proteinuria, hematuria and mild to moderate renal impairment during a period of 13 years (between January 1990 and December 2002) at the Salmaniya Medical Complex (a tertiary care hospital of the Kingdom of Bahrain), were reviewed and categorized. Primary glomerular disease accounted for two-third of the glomerular diseases, which in turn constituted 44.8% of all renal biopsies. The most common histological lesion was minimal change disease (30%). Focal and segmental glomerulosclerosis was the second most common lesion (23.8%) followed by membranoproliferative glomerulonephritis (14.3%). Secondary glomerular disease comprised 33.6% of glomerular diseases (22.7% of all the renal biopsies) with lupus nephritis forming the commonest lesion (38.9%) followed by diabetic nephropathy (31.9%) and hypertension (20.4%). Tubulointerstitial diseases accounted for 13.1% of all renal biopsies whereas transplant diseases were noted in 12.2%. The miscellaneous group including inadequate biopsies constituted 7.2% of all the biopsies. The results of this analysis were compared with surveys from other parts of the World.
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PMID:Renal biopsy findings in the kingdom of bahrain: a 13-year retrospective study. 1764 89

Sirolimus has been associated with high-range proteinuria when used in replacement of calcineurin inhibitors in renal transplant recipients with chronic allograft nephropathy (CAN). Primary FSGS was demonstrated previously in some such patients, but the coexistence of CAN lesions made the interpretation uneasy. However, nephrotic syndrome and FSGS were observed recently in three patients who received sirolimus de novo, without medical history of primary FSGS or CAN. Markers of podocyte differentiation were studied in kidney biopsies of the three patients who received sirolimus de novo and of five patients who switched to sirolimus. All patients developed FSGS lesions of classic type (not otherwise specified), but only switched patients exhibited advanced sclerotic lesions. Immunohistochemistry showed that some podocytes in FSGS lesions had absent or diminished expression of the podocyte-specific epitopes synaptopodin and p57, reflecting dedifferentiation, and had acquired expression of cytokeratin and PAX2, reflecting a immature fetal phenotype. Such a pattern of epitope expression provides evidence for podocyte dysregulation. Moreover, a decrease in vascular endothelial growth factor expression was observed in some glomeruli. In conclusion, sirolimus induces FSGS that is responsible for proteinuria in some transplant patients.
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PMID:High sirolimus levels may induce focal segmental glomerulosclerosis de novo. 1769 6

Minimal-change disease (MCD) counts for 10 to 15% of cases of primary nephrotic syndrome in adults. Few series have examined this disease in adults. A retrospective review was performed of 95 adults who had MCD and were seen at a single referral center. Examined were presenting features, response to daily versus alternate-day steroids, response to second-line agents, relapse patterns, complications of the disease and therapy, presence of acute renal failure (ARF), and outcome data. Sixty-five patients received daily and 23 received alternate-day steroids initially. There were no differences in remissions, time to remission, relapse rate, or time to relapse between daily- and alternate-day-treated patients. More than one quarter of patients were steroid resistant. At least one relapse occurred in 73% of patients; 28% were frequently relapsing. A significant proportion of frequently relapsing patients became steroid dependent. Second-line agents were used for steroid dependence, steroid resistance, or frequent relapses. No single agent proved superior. There were more remissions with second-line agents in steroid-dependent patients compared with steroid-resistant patients, and remissions were more likely to be complete in steroid-dependent patients. ARF occurred in 24 patients; they tended to be older and hypertensive with lower serum albumin and more proteinuria than those without ARF. At follow up, patients with an episode of ARF had higher serum creatinine than those without ARF. Four patients progressed to ESRD. These patients were less likely to have responded to steroids and more likely to have FSGS on repeat renal biopsy. In this referral MCD population, response to daily and alternate-day steroids is similar. Second-line agents give greater response in patients who are steroid dependent. ARF occurs in a significant number of adult MCD patients and may leave residual renal dysfunction. Few patients progress to ESRD.
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PMID:Adult minimal-change disease: clinical characteristics, treatment, and outcomes. 1769 50

Focal segmental glomerulosclerosis (FSGS) is a histologic diagnosis in several kidney diseases characterized by proteinuria and a severe decrease in kidney function. Mutations in several genes were found in patients with primary FSGS, one of which is a CD2-associated protein CD2AP (originally referred to as CMS). This gene encodes an adaptor protein that plays a role in endocytosis, cell motility, and cell survival. Mice deficient in Cd2ap (the mouse homolog) die due to kidney failure, while heterozygous mice develop lesions similar to those of FSGS patients. In the kidney, CD2AP regulates the actin cytoskeleton. The only previously described patient with CD2AP mutation had a severely truncated protein. In this study, we describe a patient with a novel mutation resulting in a premature stop codon yielding a protein truncated by only 4%. This shortened CD2AP protein displays a significantly decreased F-actin binding efficiency in vitro with no expression of the mutated allele in the patient's lymphocytes. Heterozygous expression of the CD2AP mutation in both parents did not lead to any kidney pathology, as both have normal glomerular filtration rates and no proteinuria.
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PMID:Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. 1797 7

Focal segmental glomerulosclerosis (FSGS) recurs in 30% of patients with FSGS receiving a first renal transplant and in over 80% of patients receiving a second transplant after a recurrence. Recurrence often leads to graft failure. The pathogenesis remains unknown and may involve a circulating permeability factor that initiates injury to the glomerular capillary. There are anecdotal reports of pediatric patients with posttransplant lymphoproliferative disorder (PTLD) and recurrent FSGS who have had remission of proteinuria after treatment with rituximab. These observations have prompted speculation that B cells may play a role in the pathogenesis of recurrent FSGS. We report four consecutive adult patients with early recurrent FSGS refractory or dependent on plasmapheresis who received rituximab (total dose 2000-4200 mg). None of the patients treated with rituximab achieved remission in proteinuria, and one patient experienced early graft loss. In these four adult renal transplant patients with recurrent FSGS, rituximab failed to diminish proteinuria.
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PMID:Rituximab failed to improve nephrotic syndrome in renal transplant patients with recurrent focal segmental glomerulosclerosis. 1797 98


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