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)

N-Acetyl-beta-D-glucosaminidase (NAG) activity has been measured in the serum and urine of primary and secondary diabetics and in primary diabetics with microangiopathy. NAG activity has also been measured in the tears of diabetics with ocular complications and diabetics with no ocular changes. Results have shown significantly higher levels of urinary NAG in diabetics with proteinuria (p less than 0.001) and proteinuria and retinopathy (p less than 0.001). There was no correlation between urinary NAG activity and serum creatinine (r = 0.28) or urinary NAG and the degree of proteinuria (r = 0.24). Increased urinary NAG levels were also observed in secondary diabetes associated with haemochromatosis and acromegaly. Significantly higher serum NAG levels were found in newly diagnosed diabetics (p less than 0.01) and significantly lower levels in chemical diabetics (p less than 0.01). Compared to non-diabetic controls tear NAG levels were significantly higher in the diabetic controls (p less than 0.01), in diabetics with retinopathy (p less than 0.01), and in diabetics with cataract formation (p less than 0.05). An assessment of this enzyme is made in relation to the development of diabetic microangiopathy.
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PMID:N-Acetyl-beta-D-glucosaminidase levels and diabetic microangiopathy. 48 3

A 55-year-old female with a long history of pure red cell aplasia temporarily manifested Fanconi syndrome with hypophosphatemia, hypouricemia, glycosuria, acidic amino aciduria, but not metabolic acidosis nor hypokalemia. These abnormalities completely resolved in 3-4 weeks after withdrawal of several drugs, suggesting that the cause of her Fanconi syndrome could be attributed to a drug or a combination of multiple drugs, though lymphocyte stimulating tests revealed negative results for all possible drugs. Postmortem specimen of her kidneys showed mild mesangial proliferation without significant changes in tubular and interstitial regions. Massive ferrous precipitations were found in the zona glomerulosa of the adrenal glands. The pathophysiology of Fanconi syndrome shown in the patient was likely to have been a drug-induced transient and mild dysfunction of the Na+/K+ pump of the renal proximal tubules, which might also explain the selective amino aciduria. The absence of hypokalemia corroborates well with both a lack of bicarbonaturia and hemochromatosis-induced adrenal insufficiency. Patients with a renal dysfunction associated with electrolyte derangements and without proteinuria or azotemia should be under vigilant observation when using many drugs.
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PMID:[A drug-induced transient Fanconi syndrome associated with pure red cell aplasia: pathophysiology of the electrolyte disorders]. 769 53

Chronic iron (Fe) overload is associated with a marked increase in renal tissue iron content and injury. It is estimated that 10% of the American population carry the gene for hemochromatosis and 1% actually suffer from iron overload. The mechanism of iron overload-associated renal damage has not been fully elucidated. Iron can accelerate lipid peroxidation leading to organelle membrane dysfunction and subsequent cell injury/death. Iron-catalyzed generation of reactive oxygen species (ROS) is responsible for initiating the peroxidatic reaction. We investigated the possible association of oxidative stress and its impact on nitric oxide (NO) metabolism in iron-overload-associated renal injury. Rats were randomized into Fe-loaded (given 0.5 g elemental iron/kg body weight as iron dextran; i.v.), Fe-depleted (given an iron-free diet for 20 weeks), and control groups. Renal histology, tissue expression of endothelial and inducible nitric oxide synthases (eNOS and iNOS), renal tissue expression of nitrotyrosine, plasma, and renal tissue lipid peroxidation product, malondialdehyde (MDA), and plasma and urinary NO metabolites (NOx) were examined. Iron overload was associated with mild proteinuria, tissue iron deposition together with significant glomerulosclerosis, tubular atrophy, and interstitial fibrosis. Rare focal glomerulosclerosis and tubulointerstitial changes were noted in normal controls. No renal lesions were observed in Fe-depleted rats. Iron deposits were seen in glomeruli, proximal tubules, and interstitium. The iron staining in the distal tubules was negligible. Both plasma and renal tissue MDA and renal tissue nitrotyrosine were increased significantly in Fe-loaded rats compared with control rats. In contrast, Fe-depleted animals showed a marked reduction in plasma and renal tissue MDA and nitrotyrosine together with significant elevation of urinary NOx excretion. In addition, iron-overload was associated with up-regulation of renal eNOS and iNOS expressions when compared with the control and Fe-depleted rats that showed comparable values. In conclusion, chronic iron overload resulted in iron deposition in the glomeruli and proximal tubules with various renal lesions and evidence of increased ROS activity, enhanced ROS-mediated inactivation, and sequestration of NO and compensatory up-regulation of renal eNOS and iNOS expressions. However, iron depletion was associated with reduced MDA and tissue nitrotyrosine abundance, increased urinary NOx excretion, normal nitric oxide synthase (NOS) expression, and absence of renal injury. These findings point to the possible role of ROS in chronic iron overload-induced renal injury.
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PMID:Association of renal injury with increased oxygen free radical activity and altered nitric oxide metabolism in chronic experimental hemosiderosis. 1114 Jul 2

Mutations in hemochromatosis gene cause an inappropriately high absorption of iron that induces iron overload and deposition in several tissues, such as liver, pancreas, and heart. Iron overload in the liver has been associated with a high risk of hepatocarcinoma and susceptibility to viral and bacterial infections. The aim of this study was to describe the frequencies of HFE mutations among a kidney transplant population with versus without hepatitis C virus (HCV) infection, and its influence on liver and kidney status parameters. We selected 3 populations: 2 groups of kidney transplant recipients-59 with and 60 without HCV infection-and a third control group of 50 healthy subjects. We collected clinical data concerning liver and kidney status, such as iron, ferritin, albumin, creatinine, gamma GGT, GOT, proteinuria, %prothrombin, and Bilirubin. HFE mutations among patients and controls were determined by polymerase chain reaction-restriction fragment length polymorphism using DNA from the peripheral blood. We observed no significant difference with respect to the frequencies of HFE mutations between controls and patients with versus without HCV infection. Finally comparison of HFE positive versus negative mutation carriers in both groups suggest that any clinical parameter is associated with HFE mutations.
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PMID:Frequency and influence of hemochromatosis gene mutations in kidney transplant recipients with or without hepatitis C virus infection. 1971 39