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)

From August 1989 to May 1991, 52 patients with transfusion dependent thalassaemia major received L1 (1,2-dimethyl-3- hydroxypyrid-4-one), the oral iron chelator, for a period of 3-21 months (mean +/- SD: 14.2 +/- 6.8). Mean (+/- SD) urinary iron excretion varied from 6.2 +/- 4.6 mg/d on 25 mg/kg/d of L1 to 42.3 +/- 37.1 mg/d on 100 mg/kg/d of L1. Mean (+/- SD) drop in S ferritin was 1465 +/- 990 micrograms/l after 5.0 +/- 0.8 months to 3641.2 +/- 2299.3 micrograms/l after 20.1 +/- 0.9 months of therapy. There was no evidence of neutropenia, thrombocytopenia, ear or eye toxicity. L1-related arthralgia, which was reversible on dose reduction or stoppage, was seen in 20 patients (38.5%), while minor gastrointestinal (GI) tract symptoms occurred in seven (3.5%) cases. We conclude that although L1 is an effective iron chelator, further studies are required to understand the mechanism of L1 related arthralgia and also to find a safer but effective dose on which incidence of L1 related arthralgia is minimal.
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PMID:Long-term assessment of efficacy and safety of L1, an oral iron chelator, in transfusion dependent thalassaemia: Indian trial. 828 Jun 22

Using radioimmunological estimation of beta 2-microglobulin (beta 2M), significantly greater serum values were found in 36 dialysis patients (44.4 +/- 20.3 mg/l) in comparison to healthy probands (1.5 +/- 0.2 mg/l). A significant relation to the duration of dialysis, diuresis and serum aluminium and ferritin was found. The used dialysers MLW 1.3/1.8 m2 (regenerated cellulose membrane) did not eliminate beta 2M from the blood. Significantly greater beta 2M concentrations were observed in patients suffering from arthralgia and bone pain, but not in radiologically verified arthropathy and destructive spondylarthropathy. Post-mortem examinations of 13 patients on haemodialysis treatment for between 10 and 90 months revealed synovial beta 2M-derived (AB-)amyloid deposits in four patients at different joints, but not in radiologically suspect areas. The results suggest that independent of serum beta 2M, beta 2M-derived amyloidosis may occur in elderly patients on dialysis for less than 5 years. Several cases were completely asymptomatic.
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PMID:Beta 2-microglobulin serum concentration and associated amyloidosis in dialysis patients. 177 70

A 53-year-old woman was admitted to our hospital due to high fever, arthralgia and skin rash. Main laboratory data included the following: WBC 17,100/mm, GOT 58 U, GPT 47 U, LDH 1,510 U, ferritin 19,000 ng/ml, adenosine deaminase 79.1 U/l. She was diagnosed as having adult-onset Still's disease. Aspirin (3.0 g/day) and prednisolone (40 mg/day) were administered. All the symptoms and laboratory data improved rapidly. Adenosine deaminase, ferritin, and LDH are considered to originate mainly from the liver. Liver injury in this disease may be a primary lesion, and various serum markers may be associated with the liver abnormalities.
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PMID:Adult-onset Still's disease: hepatic involvement and various serum markers relating to the disease activity. 192 Sep 66

In order to examine the efficacy and safety of long-term and low-dose desferrioxamine (DFO) therapy against hyperaluminemia and the clinical symptoms associated with hyperaluminemia, 4 patients (3 men and 1 woman, 40-62 years old, period of hemodialysis: 69-189 months) undergoing maintenance hemodialysis were treated by DFO (0.5 g/week) and hemodiafiltration for 27 weeks. 1 patient had only hyperaluminemia, but other 3 patients had refractory ostalgia and arthralgia associated with hyperaluminemia. Clinically, ostalgia and arthralgia disappeared within 1 month after the initiation of treatment. The decrease of serum aluminum level was recognized in all patients (74 +/- 7 micrograms/l to 52 +/- 7 micrograms/l). Also the decrease of delta aluminium was recognized in 2 patients. Serum iron levels did not change, but unsaturable iron binding capacity levels increased slightly. Serum ferritin level decreased in 1 patient. Serum PTH-C levels increased slightly in 3 patients. Serum total protein and albumin levels did not change. Serum transferrin levels increased slightly. Bone mineral contents were measured by microdensitometry method. In 1 patient with only hyperaluminemia, MCI and S.GS/D ameliorated remarkably. Side effects were not recognized in all patients during the course of treatment with DFO. In conclusion, it was thought that the treatment of long-term and low-dose DFO was effective and safe against hyperaluminemia and aluminium intoxication in patients undergoing maintenance hemodialysis.
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PMID:[Efficacy and safety of long-term and low-dose desferrioxamine therapy against hyperaluminemia and the clinical symptoms associated with hyperaluminemia in patients undergoing maintenance hemodialysis]. 273 24

The clinical, biochemical, radiological, and pathological features in five cases of dialysis arthropathy were analysed. All patients were receiving long term haemodialysis and had had multiple blood transfusions. The arthropathy affected both large and small joints, was predominantly bilateral, and in all cases was associated with the carpal tunnel syndrome. In some instances joint pain was exacerbated during dialysis. In four cases the serum ferritin concentration was raised. Radiological examination showed a few juxta-articular cysts and erosions but most affected joints looked normal. All synovial tissue examined showed amyloid, which stained immunohistochemically for beta 2 microglobulin. Large amounts of iron were present in synovial tissue from affected joints. It is suggested that the deposits of iron, rather than amyloid, in synovial tissue may be the cause of the arthropathy. Iron may be derived locally as a result of haemarthrosis or it may be a manifestation of systemic iron overload.
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PMID:Dialysis arthropathy: amyloid or iron? 309 87

This report details seven patients who had an arthropathy at presentation of their haemochromatosis. The spectrum ranged from arthralgia and normal radiographs to classic polyarthritis and the typical radiological triad of joint-space narrowing, sclerosis and cysts. Some atypical presentations are highlighted. An early diagnosis of haemochromatosis requires clinical suspicion; support can be obtained from serum iron studies, particularly saturation of iron-binding capacity and ferritin, and from biopsy of liver and/or synovium.
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PMID:The articular diversity of early haemochromatosis. 381 31

Twenty-three probands with idiopathic hemochromatosis were assigned the status of homozygotes: 132 of their relatives were classified as homozygotes, heterozygotes or normal individuals using the HLA haplotypes of the probands as markers of the hemochromatosis allele. Only half of the probands sought help because of symptoms or signs of iron overload. Clinical manifestations of iron loading were present, however, 95% of the probands and 67% of the discovered homozygotes. The commonest symptom was joint pain and stiffness. None of the heterozygotes had any clinical symptoms of excess body iron. High transferrin saturation and serum ferritin levels were prevalent in homozygotes: only 1 of 38 homozygotes had values for both of these measurements that were within normal limits. The level of transferrin saturation was increased in 6% of heterozygotes but only 1% had serum ferritin concns greater than 350 ng ml-1. The mean radioiron absorption levels of 27 homozygotes and 28 heterozygotes were similar to those in 44 controls. Radioiron absorption in relation to the respective serum ferritin concn was above the 95% confidence interval of controls in 65% of the homozygotes and 7% of the heterozygotes. The inverse relation between radioiron absorption and the respective serum ferritin concn observed in controls was absent in homozygotes but remained strong in the heterozygotes. Absence of the inverse relation indicates a deregulation of the iron absorptive mechanism in homozygotes which results in the size of body iron stores having no effect on the level of iron absorption.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Genetic and phenotypic expression of hemochromatosis in Canadians. 665 83

We performed an open, nonrandomized, multicenter phase-II trial to evaluate the efficacy and toxicity of 1 year of treatment with the oral iron chelator deferiprone in 38 mainly nonthalassemic patients with transfusional iron overload. Initial serum ferritin varied between 996 and 11.644 micrograms/l. Patients were treated with 3-6 g of deferiprone daily. Mean urinary iron excretion (UIE) in 36 evaluable patients was 21.0 mg/24 h and was significantly higher in the patients with thalassemia than in those with myelodysplasia. Negative iron balance was achieved in 20 patients (56%). The median duration of treatment was 10 months; due to side effects and other causes only 20 patients completed 1 year of treatment. Mean serum ferritin levels decreased from 3563 micrograms/l at the start of the trial to 2767 micrograms/l at 6 months (26 patients, p < 0.004) and to 2186 micrograms/l at 12 months (20 patients, p < 0.005). Serum ferritin levels normalized in two patients who were no longer transfusion dependent. Deferiprone was clearly not effective in three patients (two with myelofibrosis, one with myelodysplasia). One patient with myelodysplasia developed agranulocytosis after 12 months of treatment; this was rapidly reversible after stopping deferiprone. Three patients had a mild and transient decrease in white blood cell count. Other side effects leading to withdrawal from the trial consisted mainly of nausea (3 patients), arthralgia (2), and skin rash (1). No clinical signs of zinc deficiency were seen, although zinc excretion was increased in three patients. No changes were seen in liver enzymes, creatinine, antinuclear factor, T-cell subsets, cardiac function, visual acuity, and audiogram. Although our results confirm deferiprone as an effective iron chelator in patients with thalassemia and in some patients with other forms of iron overload, there is still some concern about the safety of this drug, which therefore, at this time, should be used exclusively in well-controlled clinical trials.
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PMID:Long-term treatment of transfusional iron overload with the oral iron chelator deferiprone (L1): a Dutch multicenter trial. 895 43

In April 1988, a 23 year-old woman developed high fever, arthralgia, eruptions and splenomegaly. She was treated with non Steroid anti-inflammatory drugs, and the symptoms disappeared. In June 1991, she was diagnosed as adult Still's disease and treated with prednisolone. In July 1994, she was treated with pulse therapy methylprednisolone due to high fever, eruptions, arthralgia and the high levels of ferritin. However, due to the marked increase of serum transaminase and bilirubin levels, she was referred to University hospital. She developed hepatic failure after admission Bone-marrow puncture revealed hemophagocytosis. She died ten days after admission. She was diagnosed as hemophagocytic syndrome combined with acute hepatic failure.
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PMID:[A case of hemophagocytic syndrome with severe liver injury manifestating adult Still's disease]. 939 9

Genetic haemochromatosis (GH) is one of the most common hereditary diseases, with a prevalence of 1-5/1000 in the Western world. In 90 per cent of cases a mutation is found in an MHC-class-like gene designated HFE, involving a substitution at position 282 of the HFE protein and resulting in defective binding of beta(2)-microglobulin. Animals with beta(2)-microglobulin deficiency develop iron overload, indicating this protein to be involved in the regulation of iron metabolism. Hepatic iron overload results in increased production of oxygen free radicals and peroxidation of membrane lipids, thus causing damage to lysosomes, mitochondria and the endoplasmic reticulum. These cellular events may progress to cell death, fibrogenesis, and the development of liver cirrhosis which is associated with a 200-fold increase in risk of hepatocellular carcinoma. In addition to the risk of diabetes, arthralgia, cardiac arrhythmia, pituitary insufficiency and hypogonadism, iron excess is also associated with aggravation of the cytotoxic effects exerted on hepatocytes by other agents such as alcohol or hepatotrophic viruses. The treatment of iron overload in GH consists of weekly venesection until the serum ferritin level is normalized, followed by maintenance therapy. Survival rates are normal if the disease is detected and treated before complications have developed.
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PMID:[Defective iron metabolism in genetic hemochromatosis. The mechanisms remain unknown in spite of genetic advances]. 972 62


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