Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0035078 (renal failure)
 31,970 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This is the first case of nonprimary collapsing focal segmental glomerulosclerosis (FSGS) associated with Loa loa filariasis. Loa loa micofilariae were detected on a blood smear after a patient presented with nephrotic syndrome (NS), microhematuria, and renal failure. The renal biopsy showed a collapsing glomerulopathy variant of FSGS. Microfilariae also were identified in renal microvasculature, including the afferent arterioles and the glomerular and peritubular capillaries.
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PMID:Secondary collapsing glomerulopathy associated with Loa loa filariasis. 939 29

Frasier syndrome (FS) is a rare disease defined by male pseudo-hermaphroditism and progressive glomerulopathy. Patients present with normal female external genitalia, streak gonads and XY karyotype and frequently develop gonadoblastoma. Glomerular symptoms consist of childhood proteinuria and nephrotic syndrome, characterized by unspecific focal and segmental glomerular sclerosis, progressing to end-stage renal failure in adolescence or early adulthood. No case of Wilms' tumour has been reported, even in patients with extended follow-up. In contrast with FS patients, most individuals with Denys-Drash syndrome (DDS; refs 6,7) have ambiguous genitalia or a female phenotype, an XY karyotype and dysgenetic gonads. Renal symptoms are characterized by diffuse mesangial sclerosis, usually before the age of one year, and patients frequently develop Wilms' tumour. Mutations of the Wilms'-tumour gene, WT1, cause different pathologies of the urogenital system, including DDS. WT1 is composed of ten exons and encodes a protein with four zinc-finger motifs and transcriptional and tumour-suppressor activities. Alternative splicing generates four isoforms: the fifth exon may or may not be present, and an alternative splice site in intron 9 allows the addition of three amino acids (KTS) between the third and fourth zinc fingers of WT1 (ref. 17). Here we demonstrate that FS is caused by mutations in the donor splice site in intron 9 of WT1, with the predicted loss of the +KTS isoform. Examination of WT1 transcripts indeed showed a diminution of the +KTS/-KTS isoform ratio in patients with FS.
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PMID:Donor splice-site mutations in WT1 are responsible for Frasier syndrome. 939 52

Collapsing glomerulopathy (CG), a severe form of focal segmental glomerulosclerosis (FSG), is characterized by tuft retraction and consolidation in numerous glomeruli and changes in podocyte morphology and topography. Other glomeruli are less affected. Collapsing glomerulopathy is also characterized by tubulointerstitial atrophy and fibrosis. The pathophysiology of the glomerular and tubulointerstitial lesions is poorly understood. We studied renal tissue of five Black and three White patients, all human immuno-deficiency virus (HIV) negative, with nephrotic syndrome, renal failure, and histological evidence of CG. Immunohistochemistry identified normal podocyte phenotypes by podocalyxin, vimentin and complement receptor 1 (CR1) labeling. Three monoclonal antibodies were used to further characterize podocyte epitopes: anti-CD68 clone KP1, anti-CD68 clone PG-M1 and anti-M130 clone M18 (Ber-MAC3). Light microscopy of collapsed glomeruli showed podocyte swelling, vacuolization, multinucleation, "cobblestone-like" alignment around the glomerular tuft, and pseudo-crescent formation in Bowman's space. In collapsed glomeruli, podocalyxin, vimentin and CR1 labeling tagged both normal and vacuolated podocytes still attached to the GBM, but labeling was not found in cobblestone-like podocytes or in podocytes detached from the GBM. Conversely, numerous podocytes undergoing detachment and shedding into Bowman's space expressed macrophagic-associated epitopes. Cells with macrophagic-associated epitopes clumped in cystically dilated tubules and were aligned in tubules of smaller caliber. Their appearance was that of viable cells. There was no morphologic indication that these cells expressing macrophage-associated antigens originated from outside the glomeruli or outside the tubules. We conclude that in CG podocytes detach from the GBM, lose their normal podocytic phenotype and acquire macrophage differentiation antigens. The presence of cells with such antigens in tubular lumens suggests that detached metaplastic podocytes progress along the tubule or, alternatively, that CG tubular cells also undergo metaplastic changes into macrophage-like cells.
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PMID:Podocytes undergo phenotypic changes and express macrophagic-associated markers in idiopathic collapsing glomerulopathy. 955 98

A 33-year-old male presented with end-stage renal failure. Renal biopsy showed severe interstitial fibrosis without glomerulopathy or vasculopathy. More than 10 years previously the patient had been successfully treated for recurrent rhabdomyosarcoma. The treatment included ifosfamide, a drug known to cause acute tubular dysfunction. Though a possible synergistic effect of previous radiation which was well within accepted tolerance limits cannot be excluded, it would appear that ifosfamide was almost certainly the major cause of the late onset chronic renal disease.
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PMID:End-stage renal interstitial fibrosis in an adult ten years after ifosfamide therapy. 956 55

Vascular nephropathies are a steadily increasing cause of end-stage renal failure. Arterionephrosclerosis and arteriolonephrosclerosis are common features in the hypertensive patient. This is especially true for blacks of African descent, in whom hypertension and nephrovasculopathies are a major cause of renal insufficiency. That primary hypertension leads to renal vascular lesions, glomerular obsolescence and interstitial fibrosis has long been established. It should not, however, obscure the fact that renal vascular lesions can be observed in animal models as well as in some humans, especially young blacks, in the absence of, or anticipating the onset of hypertension. This leads to considering the hypothesis that nephroangiosclerosis might stem from a genetic defect in the renal vascular bed and that this defect is strongly associated with the hypertensive trait. Atherosclerotic renal disease is a major, potentially treatable cause of chronic renal disease is a major, potentially treatable cause of chronic renal failure, especially in whites. It leads to renal atrophy, but the ischemic kidney retains a vigorous potential for tubular cell regeneration, which pleads for early recognition and treatment. Recent data suggest that renal ischemia, be it due to renal artery stenosis or to cholesterol crystal embolism, ranks among the multiple causes of secondary focal segmental glomerulosclerosis. Irrespective of its initial mechanism, ischemia induces renal fibrosis, the pathophysiology of which is centered on increased generation of angiotensin II. Finally, renal vascular lesions are commonly observed in the course of various nephropathies, even in the absence of hypertension, and the relationship between these lesions and the unfavorable prognosis of glomerulopathies, especially primary focal-segmental glomerulosclerosis, membranous glomerulopathy and IgA glomerulonephritis, remains to be elucidated. Expanding knowledge of the spectrum of nephrovasculopathies opens perspectives for investigating, understanding and treating a major mechanism of progressive renal insufficiency.
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PMID:Ischemic renal diseases: new insights into old entities. 964 58

The most common form of glomerular disease seen in association with hepatitis C virus (HCV) infection is membranoproliferative glomerulonephritis, with or without associated cryoglobulinemia. This study examines four cases of fibrillary glomerulonephritis and two cases of immunotactoid glomerulopathy in association with HCV infection. Findings at presentation included proteinuria, renal insufficiency, and hematuria. Renal biopsy revealed a membranoproliferative pattern of glomerular disease in five cases, and a membranous glomerulopathy with mesangial proliferative features in one. On immunofluorescence, all cases stained with IgG and C3. Electron microscopy revealed fibrils of the expected diameter, 16 to 28 nm in fibrillary glomerulonephritis and 33 to 45 nm in immunotactoid glomerulopathy. In only one case were cryoglobulins detected (at low titer and on only one of three assays). Antiviral therapy was not given in any of the six cases. Outcomes were mixed, with progression to renal failure occurring in two patients and persistent proteinuria with stable or improved renal function in three. Follow-up is not available on the sixth case. Both fibrillary glomerulonephritis and immunotactoid glomerulopathy have features that overlap with cryoglobulinemic glomerulonephritis. The relatedness of these three entities in a subset of patients with HCV infection suggests a common pathogenic mechanism of glomerular deposition of organized deposits.
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PMID:Hepatitis C viral infection is associated with fibrillary glomerulonephritis and immunotactoid glomerulopathy. 984 78

Nephropathy of non-insulin-dependent diabetes mellitus (NIDDM) is the most common cause of end-stage renal failure (ESRF) in Western countries. This study investigates the clinical and histologic putative predictors of disease progression, with the final goal to identify patients at risk who may benefit from early diagnosis and intervention. It examines by repeated measurements of BP, blood glucose, serum creatinine, and urinary protein excretion rate 65 consecutive NIDDM patients with clinical, persistent proteinuria and biopsy-documented typical diabetic glomerulopathy (class I; n = 30), predominant nephroangiosclerosis (class II; n = 23), or nondiabetic type glomerulopathy (class III; n = 12), whose severity of renal tissue involvement was precisely quantified by a global histologic score. Baseline parameters and progression to renal end points, i.e., doubling of baseline serum creatinine, dialysis, or transplantation, were univariately and multivariately correlated by proportional hazards regression models. The median kidney survival time in the overall study population was 3.07 yr. Thirty-seven percent of patients reached an end point during a median (range) follow-up of 1.8 yr (0.4 to 5.7 yr). By univariate and multivariate analysis, kidney survival significantly correlated with baseline urinary protein excretion rate (P = 0.04 and P = 0.04, respectively) and renal tissue injury score (P = 0.0001 and P = 0.02, respectively), but not with the histologic classes. Patients with a urinary protein excretion rate < or = 2 g/24 h, or > 2 g/24 h with a histologic score < 7, never reached an end point. All patients with urinary protein excretion > 2 g/24 h and a histologic score > 13 progressed to ESRF over a median of 1.6 yr. No differences in other baseline parameters or in BP and diabetes control during follow-up accounted for these different outcomes. In NIDDM as well as in nondiabetic chronic renal disease, quantification of urinary protein excretion rate--independent of the pattern of underlying glomerular involvement--reliably discriminates progressors from nonprogressors and, combined with precise quantification of renal tissue injury, reliably predicts risk of ESRF. This information may be used to set guidelines for early diagnosis and appropriate intervention to reduce the number of diabetic patients who will need renal replacement therapy in years to come.
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PMID:The nephropathy of non-insulin-dependent diabetes: predictors of outcome relative to diverse patterns of renal injury. 984 88

The cheetah (Acinonyx jubatus) is an endangered species with low fecundity and premature death in captivity. A previous survey determined that renal failure as a result of glomerulosclerosis was a major cause of death in captive populations. This study characterizes the morphologic, histochemical, and epidemiologic properties of glomerulosclerosis in this population. Kidneys from 87 cheetahs were examined by light microscopy; kidneys from six of those cheetahs were examined by electron and fluorescent microscopy using special stains specific for collagen, glycoproteins, reticulin, and fibrin. Immunohistochemistry for the advanced glycosylation end products (AGEs), pyrraline and pentosidine, also was performed on these cases. Glomerulosclerosis was present to some degree in 82% of the population, and in 30% of cheetahs the sclerosis was moderate to severe. Affected cheetah kidneys had thickened glomerular and tubular basement membranes, culminating in glomerulosclerosis. Thickened basement membranes were positive for collagen, glycoproteins, reticulin, and AGEs. Ultrastructurally, membrane material was homogeneous and fibrillar without electron-dense deposits. This glomerular lesion in cheetahs resembles diabetic glomerulopathy in humans and chronic progressive nephropathy in rats. No cheetahs had lesions of diabetes. However, adrenal cortical hyperplasia was prevalent and highly correlated with glomerulosclerosis in this population. If cheetahs with glomerulosclerosis had hypercorticoidism, then hyperglycemia and glomerular hypertension could lead to progressive AGE and plasma protein accumulations in membrane lesions. As in rats, daily feeding of high-protein diets and lack of genetic variation in the population may further contribute to the high prevalence of glomerulosclerosis in captive cheetahs.
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PMID:Glomerulosclerosis in captive cheetahs (Acinonyx jubatus). 992 51

Fibrillary/immunotactoid glomerulopathy is characterized by organized glomerular deposition of extracellular, nonbranching, immunoglobulin-derived microfibrils, which is not associated with systemic diseases such as amyloidosis, cryoglobulinemia, or monoclonal gammopathy. This is an uncommon condition with an obscure etiology and accounts for approximately 1% of primary glomerular diseases in white populations. We report the first case of familial fibrillary/immunotactoid glomerulopathy affecting a brother and a sister in a Chinese family. Both patients presented with heavy proteinuria, which improved transiently on treatment with prednisolone and cyclophosphamide. Human lymphocyte antigen typing for the siblings showed no haplotype association. Despite the generally poor renal prognosis reported in the literature, with 50% of patients reaching end-stage renal failure within 2 to 4 years, both patients had relative preservation of renal function (creatinine clearance from 79 to 76 mL/min/1.73 m2 after 2 years in one patient and from 111 to 99 mL/min/1.73 m2 after 3 years in the other). Our observations show that fibrillary/immunotactoid glomerulopathy can present as a familial condition. Compared with sporadic cases, patients with familial fibrillary/immunotactoid glomerulopathy may have a more favorable renal prognosis.
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PMID:Fibrillary glomerulonephritis in siblings. 1007 81

A 23-year-old male Japanese student presented a unique lobular glomerulopathy characterized by mesangial and subendothelial expansion with numerous periodic acid-Schiff-positive deposits. Electron microscopy showed massive fine granular deposits with a homogeneous distribution. Fibrillar or microtubular structures were not demonstrated. Fibronectin was positive on immunostaining, as was immunoglobulin G and fibrinogen. Familial study revealed that the patient's grandfather, two aunts, and one cousin on his father's side had developed end-stage renal failure. Clinicopathologic features of this patient are identical with those of familial lobular glomerulopathy, which has been previously described by several investigators. Seven of the previously reported families were white and resided in the United States or in European countries. This is the first report of an Asian case, and indicates that this disease universally occurs independently of racial specificity.
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PMID:Familial lobular glomerulopathy: first case report in Asia. 1007 83


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