Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P02794 (ferritin)
 17,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pruritus is a major disorder among the skin derangements in advanced renal failure. Its prevalence seems to be diminishing perhaps because of improvements in dialysis treatment. Recent information suggests that interactions between dermal mast cells and distal ends of nonmyelinated C fibers may be important in the precipitation and regulation of the sensory stimuli. The knowledge as to the control of pruritus transmission to cortex areas is still incomplete but endogenous opioid and opioid receptors may have a role in this regard. A recent classification was proposed for pruritus based on the level of its origin. Uremic pruritus, however, seems to be too complex to fit perfectly in any of the suggested modalities. Inflammation and malnutrition are recognized risk factors for cardiovascular death in end-stage renal disease patients, which may be related to the genesis of pruritus. Consistent with this concept, lower serum levels of albumin and higher serum levels of ferritin were found in pruritic patients when compared to nonpruritic ones. Newer treatments for this difficult clinical problem are being developed and tested.
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PMID:Uremic pruritus: a review. 1621 63

Cardiovascular disease is one of the most important causes of morbidity and mortality in children with end-stage renal failure. Chronic inflammation and malnutrition have been suggested to be risk factors for cardiovascular disease. However, to date, biomarkers of inflammation have not been well studied in children. The aim of this study was to investigate the relation between chronic inflammation and cardiovascular risk factors in children on hemodialysis therapy. Twenty-seven patients on hemodialysis (14 girls, 13 boys) of mean age 15.3 +/- 2.4 years and 20 healthy children (13 girls, 7 boys) of mean age 14.3 +/- 2.7 years were included the study. C-reactive protein (CRP), albumin, prealbumin, transferrin, ferritin, and fibrinogen were measured as the markers of inflammation. The levels of CRP, ferritin, and erythrocyte sedimentation rate among hemodialysis patients were significantly higher than those of control subjects (P < .001 for all). Albumin and transferrin levels were found to be lower than those of control group (P = .02 and P < .001, respectively). CRP levels were negatively correlated with albumin, prealbumin, apoprotein A1, HDL, and hemoglobin levels, and positively correlated with erythropoietin/Htc ratios. This study suggests that hemodialyzed children are exposed to chronic inflammation. In addition, CRP may be an indicator of chronic inflammation related to cardiovascular risk factors, such as malnutrition, dyslipidemia, and anemia. In conclusion, we suggest that the risk of cardiovascular disease could be reduced by defining markers of chronic inflammation and malnutrition in hemodialyzed children and by taking necessary measures at an early stage.
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PMID:Relationship between chronic inflammation and cardiovascular risk factors in children on maintenance hemodialysis. 1621 60

We have characterized a new abnormal hemoglobin (Hb) at position 32 of the alpha-globin chain. The proband, a 38-year-old woman of Surinamese Black ancestry, was referred to the Academic Hospital in Amsterdam, The Netherlands, after 3 years of Prednisone treatment in Surinam. Kidney failure was diagnosed at the Nephrology Department, Free University Medical Center, Amsterdam, The Netherlands; the cortisone treatment was interrupted and dialysis was started. At this stage, a microcytic hypochromic anemia was observed with high reticulocyte (40%) and ferritin (500 microg/L) levels, and hemoglobinopathy was suspected. No abnormal bands were visible on alkaline electrophoresis and high performance liquid chromatography (HPLC). The Hb A2 level was normal (2.7%) and the erythrocyte count was low (3.59 x 10(12)/L) with a normal haptoglobin level (68 mg/100 mL). None of the common alpha-thalassemia (thal) deletion defects were present. The beta-globin gene sequence was normal but the alpha2-globin gene sequence revealed an ATG-->ATA transition at codon 32, changing the methionine into an isoleucine residue. The mutation, called Hb Amsterdam, was observed in the mother of the proband, who was also heterozygous for the--alpha3.7-thal deletion and affected by a moderate microcytic hypochromic anemia. Both Hb Amsterdam and the--alpha(-3.7) allele were found in association with a new polymorphism, IVS-I-39 (C-->T), previously observed in our laboratory in seven patients of African origin, on both the alpha1 and alpha2 genes. In addition, Hb Amsterdam was also associated with the common African alpha2 polymorphism (G-->CTCGGCCC at position 7238 and T-->G at position 7174). Hb Amsterdam is the first mutation ever described at codon alpha32, a position involved in alpha1/beta1 interaction. The possibility of a contribution of this mutation to the nephropatic state of the proband is discussed.
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PMID:Hb Amsterdam [alpha32(B13)Met--Ile (alpha2)]: a new unstable variant associated with an alpha-thalassemia phenotype and a new African polymorphism. 1637 Apr 85

A normocytic normochromic anemia is one of the first signs of renal failure. Since anemia increases morbidity and mortality, its elimination is one of the essential objectives of the treatment. Human recombinant erythropoietin (rHuEPO) has changed the therapeutical approach to anemia. The aim of the present study was to compare efficacy of anemia correction in peritoneal dialysis patients depending on treatment and dialysis modality. The study is the retrospective analysis of 64 patients who presented to our Clinic in 2003. Eighteen (28.13%) patients were treated with rHuEPO, 14 (28%) underwent continuous ambulatory peritoneal dialysis (CAPD), 2 (100%)--automated peritoneal dialysis (APD) and 2 (33.3%)--intermittent peritoneal dialysis (IPD). Mean hemoglobin level was 98.6 +/- 17.82 g/l in patients treated with rHuEPO versus 98.81 +/- 15.14 g/l in patients without rHuEPO treatment. Erythropoietin requirements were 3392.85 +/- 1211.77 IU/week All patients received iron supplementation during rHuEPO therapy. Mean serum ferritin levels were 463.41 +/- 360 ug/l. Transferrin saturation (TSAT) was 0.35 +/- 0.16%. No difference of serum iron and TSAT levels was found between CAPD and IPD patients. The degree of anemia significantly differed between CAPD and IPD patients. A total of 17.11% of PD patients were given blood transfusions, most frequently during the first three months after the onset of dialysis. Our conclusion is that the number of patients receiving rHuEPO should be increased, as 50% of our patients should be substituted, while only 28% are being treated. As 50% of patients receiving rHuEPO failed to reach target Hgb levels, higher EPO doses should be considered. Iron stores should be continuously monitored, particularly in patients receiving rHuEPO, since iron deficiency is an important problem for patients undergoing peritoneal dialysis, especially during erythropoietin therapy. Oral iron supplementation is satisfactory in the majority of patients, and iron-gluconate is absorbed better than iron-sulphate. If required, intra-venous iron bolus is safe and efficient. Continuous peritoneal dialysis treatment improves blood count more effectively compared to intermittent procedures, as hemoglobin levels are significantly higher in patients with comparable iron stores. Peritoneal dialysis is particularly efficient in improving the blood count in diabetics, since no significant difference of anemia between patients affected by diabetes mellitus and the others could be found in our study.
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PMID:[Anemia in peritoneal dialysis patients]. 1691 54

Familial amyloid polyneuropathy type I (FAP-I) is caused by a mutant transthyretin (TTR V30M) produced by liver, and orthotopic liver transplantation (OLT) is a widely accepted treatment for stopping the major production of TTR V30M. Anemia affects 24.8% of symptomatic FAP-I patients with low erythropoietin (Epo) levels, suggesting a blockage of Epo-producing cells by local or circulating factors. To evaluate the putative toxicity effect of the mutant protein on Epo-producing cells and consequent Epo production, clinical and laboratory parameters of 20 FAP patients were collected before and after liver transplantation, analyzed and compared. Following OLT, the prevalence of anemia increased, with a significant decrease in transferrin saturation, but without significant change in ferritin. Serum Epo levels remained low after OLT and the observed to expected (O/E) Epo level ratio decreased even further after OLT (O/E < 0.8 rose to 70%). Despite the decrease in creatinine clearance (95.1 to 66.9 ml/min, p < 0.001), a similar median O/E Epo level was observed, independently of the presence of renal failure, excluding an important impact of renal failure on Epo production. The increase of anemia after OLT and the maintenance of a defective endogenous Epo production after liver transplantation excluded an inhibitory effect of the circulating TTR V30M on the Epo-producing cells.
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PMID:Liver transplantation and anemia in familial amyloidosis ATTR V30M. 1745 23

Cases of fatal, acute, irreversible renal failure and cytopenias, including agranulocytosis and thrombocytopenia, have been disclosed in a postmarketing report on deferasirox, a few months after the European Union authorities and about a year after the FDA proceeded to its accelerated approval. No details on the incidence rate or the cause of these toxicities have yet been reported. Other toxic side effects include skin, gastric, auditory and ocular abnormalities, and hepatitis. Regular serum creatinine, blood counts and other toxicity monitoring as well as withdrawal of deferasirox from the patients affected and those with serum ferritin < 0.5 mg/l was recommended. Toxicity, inability to clear cardiac iron and high cost (60 euros/g) question the future universal role of deferasirox, by comparison with the safety and efficacy records of deferiprone, deferoxamine and their combination in the treatment of transfusional iron overload. Also questioned are the procedures adopted by regulatory authorities and the marketing methods of pharmaceutical companies on orphan drugs, which are of no benefit to thalassaemia patients in developing countries.
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PMID:Deferasirox: uncertain future following renal failure fatalities, agranulocytosis and other toxicities. 1748 Jan 73

We conducted this study to determine the achievements of the current practice guidelines in the management of anemia in the Arabian Gulf Countries. The survey was designed as a retrospective, one day screening of adult patients with end-stage renal disease in six Arabian Gulf countries including Saudi Arabia, Kuwait, Bahrain, Oman, United Arab Emirates and Qatar. Data were collected on patients undergoing chronic dialysis. For random patient sampling, each participating center drew up an alphabetical list of all hemodialysis (HD) or peritoneal dialysis (PD) patients which were 18 years or older and selected every fourth patient on the list. A total of 563 patients from 18 centers were included in the survey. The most common cause of end-stage renal failure was diabetic nephropathy, closely followed by chronic glomerulonephritis. The majority of patients were treated by HD, with only 20% receiving PD. The mean (+/-SD) hemoglobin (Hgb) concentration was 115 +/- 15 g/L (median, 115 g/L; range, 61-159 g/L). The Hgb concentration was > or = 110 g/L in 28%, > or = 120 g/L in 38% and < 100 g/L in 16%. Information on their iron status was available for 97% of patients, ferritin levels were available for 97% and TSAT values for 67% were available. The mean serum ferritin concentration for the study patients was 503 +/- 406 ng/ml (median, 390 ng/ml; range, 20.0-2960 ng/ml); 90.5% had a serum ferritin concentration > 100 ng/ml. We conclude that the results of our study demonstrate anemia management in the Gulf countries which is comparable to the European Survey on Anemia Management 2003 (ESAM 2003). However, many patients still have not reached the current recommendation of anemia management.
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PMID:The Gulf Survey on Anemia Management (GSAM 2005). 1749 96

Alport disease is caused by mutations in genes encoding the alpha3, alpha4, or alpha5 chains of type IV collagen, which form the collagenous network of mature glomerular basement membrane (GBM). In the absence of alpha3, alpha4, alpha5 (IV) collagen, alpha1, alpha2 (IV) collagen persists, which ordinarily is found only in GBM of developing kidney. In addition to dysregulation of collagen IV, Alport GBM contains aberrant laminins, which may contribute to the progressive GBM thickening and splitting, proteinuria, and renal failure seen in this disorder. This study sought to characterize further the laminin dysregulation in collagen alpha3(IV) knockout mice, a model of Alport disease. With the use of confocal microscopy, laminin alpha1 and alpha5 abundance was quantified, and it was found that they co-distributed in significantly large amounts in areas of GBM thickening. In addition, labeling of entire glomeruli for laminin alpha5 was significantly greater in Alport mice than in wild-type siblings. Reverse transcriptase-PCR from isolated glomeruli demonstrated significantly more laminin alpha5 mRNA in Alport mice than in wild-type controls, indicating upregulated transcription of Lama5. For testing glomerular barrier function, ferritin was injected into 2-wk-old Alport and control mice, and GBM was examined by electron microscopy. Highest ferritin levels were seen in Alport GBM thickenings beneath effaced podocyte foot processes, but morphologically normal GBM was significantly permeable as well. We concluded that (1) ultrastructurally normal Alport GBM residing beneath differentiated podocyte foot processes is inherently and abnormally permeable, and (2) upregulation of Lama5 transcription and concentration of laminin alpha1 and alpha5 within Alport GBM thickenings contribute to abnormal permeabilities.
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PMID:Laminin compensation in collagen alpha3(IV) knockout (Alport) glomeruli contributes to permeability defects. 1769 9

Pruritus is a common problem in dialysis patients. The aim of this study was to determine the cause(s) of pruritus and its relationship with inflammatory proteins. In a cross sectional study, all patients on hemodialysis at the Emam Khomaine and Sina Hospital, Tehran, Iran who did not have any pruritus-producing skin lesions were studied. They were questioned about the occurrence of pruritus during the preceding two weeks. Variables including inflammatory proteins (C-reactive protein, albumin, ferritin, transferrin, fibrinogen), hemoglobin, red blood cell indices, iron, iron binding capacity, transferring saturation, urea, creatinine, calcium, phosphorus, calcium x phosphorus product, alkaline phosphatase and parathormone were determined. Data were analyzed using Anova or Chi-square tests for evaluation of difference between variables. Of the 164 patients studied, 80 (49%) had pruritus. Of these, 45 subjects (23.8%) had severe and 35 (21.3%) mild to moderate pruritus. There were no significant differences between groups with or without pruritus for age, sex, duration on dialysis, dialysis adequacy, cause of renal failure and erythropoetin usage. Mean CRP was 16.6 mg/L; 58.5% of the patients had CRP > 10 mg/L. There was no significant correlation between CRP levels and presence or severity of pruritus. Also, none of the other inflammatory proteins revealed any significant differences. Among the other parameters, only the mean MCV levels were significantly different between the three groups (P < 0.05). Our study suggests that inflammatory proteins do not play any part in hemodialysis associated pruritus.
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PMID:Inflammation and pruritus in hemodialysis patients. 1808 25

To characterize the nutritional status of renal failure patients and its relationship with hemodialysis adequacy measured by Kt/V, a study was carried out with a population of 44 adult patients with renal failure and mean age 51+/-15 years. Anthropometric data, such as dry weight, height, arm circumference, triceps skinfold thickness, mid-arm muscle circumference, and body mass index were assessed, and biochemical tests were conducted for urea, potassium, creatinine, serum albumin, and phosphorus levels, in addition to hemogram and quarterly urea reduction rate average (Kt/V). In order to evaluate calorie intake, a dietary questionnaire on habitual daily food ingestion was administered, taking into consideration the hemodialysis date. The patients were divided into 2 separate groups for the statistical analysis, with 50% of the patients in each group: A (Kt/V<1.2) and B (Kt/V>1.2). The data were tabulated as mean and standard deviation, with differences tested by Student's t test. The correlations between variables were established by the coefficient p of Pearson. Most of the patients (43%) were considered eutrophic, based on the BMI, and presented inadequate calorie intake, corresponding to 88.5+/-24% (30.8 kcal/kg actual weight) of the total energy required and adequate protein intake, reaching 109.9+/-40% of the recommended daily allowance (1.24 g/kg of actual weight). There was a correlation of Kt/V with anthropometric parameters such as body mass index, arm circumference, and mid-arm muscle circumference. The biochemical parameters related to dialysis adequacy were albumin, ferritin, and urea (predialysis). Well-dialyzed patients presented better levels of serum albumin. There was an influence of gender and age on correlations of the analyzed variables. Female and younger patients presented better dialysis adequacy. The dialysis adequacy was related to the nutritional status and influenced by the protein intake and body composition. Gender and age had an important influence in the dialysis adequacy, as men presented lower dialysis adequacy and younger adults presented better dialysis adequacy. Further research is necessary to understand better how to facilitate effective and efficient techniques for the nutritional status assessment of hemodialysis patients.
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PMID:Dialysis adequacy and nutritional status of hemodialysis patients. 1827 40


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