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)

A Hispanic girl with Lowe oculocerebrorenal syndrome (OCRL), an X-linked recessive condition characterized by cataracts, glaucoma, mental retardation, and proteinuria, is reported. A balanced X;20 chromosomal translocation with the X chromosome breakpoint at q26.1 was found with high-resolution trypsin-Giemsa banding. Somatic cell hybridization was used to separate the X chromosome derivative and the chromosome 20 derivative in order to position, with respect to the translocation breakpoint, several DNA loci that are linked to the Lowe syndrome locus (Xq24-q26). DXS10 and DXS53 were found to be distal to the breakpoint, whereas DXS37 and DXS42 were located proximal to it. These studies suggest that the OCRL locus lies in the region between these probes. The translocation chromosome originated from an unaffected male without a visible translocation, indicating that the most likely cause of OCRL in this patient is the de novo translocation that disrupted the OCRL locus.
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PMID:Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint. 189 26

We describe a 61-year-old patient suffering from gamma-1-heavy-chain disease (gamma 1-HCD) associated with Bence-Jones-lambda proteinemia and proteinuria. The analysis of the patients gamma 1-HCD protein (WIN) shows a deletion of the complete Fd fragment. The N-terminal seven amino-acid residue does not resemble any of the known immunoglobulin-heavy-chain variable regions. Unexpectedly, in PBL-DNA and in DNA from EBV-immortalized cells we found in addition to the expected predominantly rearranged Ig-lambda-light-chain gene a predominant rearrangement of an Ig-kappa gene. These findings show that the gamma-1-heavy-chain disease of the patient involves a defective regulation of Ig-light-chain-gene activation as well.
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PMID:[Gamma-1 heavy chain disease with the demonstration of Bence-Jones proteins]. 191 71

Although the etiology of systemic lupus erythematosus (SLE) is thought to be multifactorial, genetic factors may play some role in its pathogenesis. Supportive of this hypothesis are the studies of identical twins and familial cases of SLE. We describe below a family in which mother and son both developed SLE. The mother was diagnoged as SLE at age 25, and had been treated with prednisolone. In February 1989, she had massive proteinuria. The onset of the son's disease was at age 13 in 1988, when he noted erythema and photosensitivity. At admission to our hospital in 1989, he had polyarthralgia, proteinuria, positive antinuclear antibody, positive anti-DNA antibody. Both two patients had a same haplotype, HLA A2.BW61(40).DR9. Two asymptomatic members of this family were also studied, the younger son had positive antinuclear antibody and hypocomplementemia.
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PMID:[Familial systemic lupus erythematosus in mother and son]. 192 Sep 42

We reviewed the initial serological data of 50 patients with biopsy-proven lupus nephritis. As compared with a group of lupus patients without nephritis, patients with nephritis had lower serum complement C3 (p less than 0.05) and C4 (p less than 0.005) levels and higher serum DNA binding activity (p less than 0.001). The frequency of rheumatoid factor, antiphospholipid, anti-ENA, and fluorescent antinuclear antibodies was similar in both groups. We correlated the serological data of the patients with nephritis with the clinical severity of their disease. Using a functional staging system based on the serum albumin and creatinine levels at the time of biopsy, we found that patients with functionally milder disease (proteinuria without nephrotic syndrome or renal failure) had higher C3 (p less than 0.05) and lower DNA binding (p less than 0.005) than patients in the more severe functional classes (nephrotic syndrome with or without renal failure). In contrast, C4 levels were always very low, irrespective of functional severity. We also correlated the serological data with the pathological findings. Patients suffering from diffuse proliferative nephritis had higher DNA binding values than patients with focal proliferative (p less than 0.01) or membranous (p less than 0.001) nephritis. By contrast, complement levels were not correlated with the severity of biopsy changes. Taken together, the data presented here suggest that C3 and DNA binding, but not C4, correlate with the clinical severity of lupus nephritis at presentation whereas DNA binding, but not complement levels, correlates with the severity of pathological changes.
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PMID:Lupus nephritis: the significance of serological tests at the time of biopsy. 193 81

In subcellular systems, doxorubicin hydrochloride (ADR) leads to the generation of reactive oxygen species such as superoxide anion. Because reactive oxygen species have been shown to be important mediators of glomerular injury in several animal models, we sought to determine whether reactive oxygen species play a significant role in the pathogenesis of ADR-induced nephrotic syndrome in the rat. Rats pretreated with a variety of free radical scavengers (superoxide dismutase conjugated to polyethylene glycol [PEGSOD], catalase, catalase plus PEGSOD, dimethylsulfoxide, desferoxamine, or n-acetyl cysteine) had no significant reduction in proteinuria at 3 weeks after ADR administration when compared with rats receiving ADR in the absence of scavengers. No evidence was seen of increased lipid peroxidation or depletion of reduced glutathione in renal cortex tissue obtained up to 24 hours after administration of ADR. No changes were seen in the renal cortical levels of either enzyme activity or immunoreactive protein for the endogenous antioxidant enzymes superoxide dismutase (either the Mn or CuZn forms) or catalase after ADR. Total and MnSOD activities in glomeruli isolated from rats after ADR administration fell significantly, though CuZnSOD activity was increased. The effect of ADR on cultured rat mesangial or epithelial cells was also evaluated. ADR inhibited growth of both cell types at concentrations of approximately 5 to 10 mumol/L, an order of magnitude below the reported Michaelis-Menten constant for ADR-induced superoxide production. The growth inhibitory effect could not be prevented in either cell type by treatment with PEGSOD, catalase, or PEGSOD plus catalase. This combination of results from in vivo and in vitro studies provides no evidence for an important role of reactive oxygen species in ADR nephrosis and suggests that other known mechanisms of ADR cytotoxicity, such as interference with DNA metabolism, mediate the glomerular injury.
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PMID:Evaluation of the role of reactive oxygen species in doxorubicin hydrochloride nephrosis. 194 May 84

Autoimmune disease-prone (NZB x NZW)F1 (B/W) female mice are a model of human lupus erythematosus. Immune milk, obtained from cows immunized with various intestinal bacterial antigens, was given to B/W mice as a component of diets beginning at 8 wk of age. Diets were fed ad libitum or restricted to 60% of ad libitum energy intake. Controls were fed commercial skim milk. In B/W mice fed ad libitum, the titers of anti-single-stranded DNA antibodies were significantly lower in immune milk-fed mice at 4 and 6 mo of age. Onset of proteinuria was delayed and life span was significantly prolonged by immune milk feeding. Surface phenotypes of the T cells and levels of the responsiveness of lymphocytes to mitogens were not changed by immune milk feeding. The B/W mice restricted to 60% of ad libitum energy intake, which preserved immune responsiveness, had not developed proteinuria by 14 mo of age, irrespective of immune milk feeding or control milk feeding. However, at 10 mo of age, the level of plasma antibodies against intestinal bacteria was significantly higher in energy-restricted mice fed control milk than in those fed immune milk or in mice fed ad libitum.
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PMID:Influence of intake of skim milk from cows immunized with intestinal bacterial antigens on onset of renal disease in (NZB x NZW)F1 mice fed ad libitum or restricted in energy intake. 194 Nov 93

Recent data suggest genetic contributions to the microvascular complications of Type 1 (insulin-dependent) diabetes mellitus. Most research has focused on the HLA region, and the potential role of other genetic loci has not been adequately explored. We examined the possible relationship between DNA polymorphisms in the region 5' to the insulin gene on chromosome 11 and diabetic nephropathy. This was done by comparison of those diabetic patients homozygous for class 1 alleles at the 5' insulin gene polymorphism locus to 1/3 heterozygotes in a well-characterized series of 324 insulin-requiring diabetic patients from the Wisconsin Epidemiologic Study of Diabetic Retinopathy. Proteinuria (defined as greater than or equal to 0.3 g protein/l urine), was used as suggestive evidence for diabetic nephropathy. Hypertension, a frequent associated finding in diabetic patients with nephropathy, was defined as a blood pressure greater than 140/90 or a history of previous treatment of hypertension. The two genotypically defined groups did not differ from each other in regard to sex ratio, age at diagnosis, age at examination, duration of diabetes, body mass, HbAlc or C-peptide. The 1+1 group had a higher prevalence of proteinuria, 29% as compared to 16.2% in other genotypes (p less than 0.05). There was no significant difference in the frequency of hypertension between the two genotypic groups. This finding suggests that the 5' insulin gene polymorphism may be associated with risk for nephropathy, but the pathophysiologic mechanism remains unclear.
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PMID:The 5' insulin gene polymorphism and the genetics of vascular complications in type 1 (insulin-dependent) diabetes mellitus. 195 2

MRL-lpr/lpr mice develop T cell lymphadenopathy, polyclonal activation of B lymphocytes, autoantibodies and lupus nephritis. B and T cell populations, the dysfunctions of which play a role in the pathophysiology of the mouse disease, represent potential targets for lupus treatment. MRL-lpr/lpr mice are treated from the age of 19 weeks, i.e. after the onset of renal disease and lymphoproliferation, with Cyclosporin A which acts at the T cell level, or with DIAM4 which can down modulate polyclonal activation of B lymphocytes. DIAM4 induces the disappearance of the lymphoproliferation, the increase in C3 levels and the decrease in anti-DNA antibody, immunoglobulin and urea levels, and proteinuria. Cyclosporin A reduces lymph node hyperplasia, but has no effect on other parameters of the disease.
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PMID:Treatment of end stage MRL-1pr/lpr mouse lupus disease by a cyclophosphazene derived drug and by cyclosporin A. 196 44

Previously we found that corticosteroid treatment in the hepatitis B virus (HBV)-associated membranous nephropathy (HBVMN) was not associated with a favorable outcome. To distinguish the differences of the HBV DNA in macrophage, T and B cells among HBVMN patients with or without corticosteroid treatment, serial studies at different time points were investigated. HBV DNA appeared as an "episomal" molecule as with 3.2 kb in macrophage, T and B cells. This molecule disappeared after 12 months among HBVMN patients without corticosteroid treatment. HBV DNA, by contrast, appeared as episomal form even three years later in T cells, with frequent proteinuria among HBVMN patients with corticosteroid treatment. This finding indicates that the use of corticosteroids leads to a potential risk of enhancing HBV viral replication in T cells. We studied 24 HBVMN patients who had previously received corticosteroid treatment and had persistent proteinuria, who were administered combination therapy with adenine arabinoside for two weeks and thymic extract (Thymostimulin) for six months to decrease urine protein loss and obtain seroconversion. These 24 patients had heavy (22 of 24, 91.6%) or mild (2 of 24, 8.4%) proteinuria prior to adenine arabinoside and thymostimulin treatment. All 24 patients demonstrated HBV DNA in mononuclear cells and simultaneously exhibited sera positive with HBsAg and HBeAg. In contrast, after treatment only one case (4.2%) had heavy and two cases (8.4%) mild proteinuria; HBV DNA was demonstrated in macrophage (4 of 24, 16.7%), T cells (9 of 24, 37.5%), and B cells (6 of 24, 25%) as well as serum (24 of 24, 100%) prior to treatment.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Treatment of hepatitis B virus-associated membranous nephropathy with adenine arabinoside and thymic extract. 200 43

We studied the effects of difluoromethylornithine (DFMO), an experimental drug that inhibits the biosynthesis of natural polyamines, on anti-DNA antibody production, immunoglobulin synthesis, proteinuria, and blood urea nitrogen (BUN) in lupus-prone female NZB/W mice. Administration of 1% of the drug in drinking water reduced anti-DNA antibody levels by about 80% of that of untreated mice of the same strain. There was a reduction of IgG and IgA levels in older DFMO treated mice, whereas IgM level was not affected. Proteinuria and BUN were also significantly reduced in treated mice. Moreover, DFMO treatment reduced the concentration of putrescine and spermidine in spleen cells. Our results suggest that polyamine biosynthesis inhibition by DFMO may provide a new approach to the treatment of lupus.
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PMID:Difluoromethylornithine therapy of female NZB/W mice. 202 14


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