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)

Hereditary hemochromatosis is an inherited autosomal recessive disease, associated to a mutation in the recently described HFE gene, which is located on the short arm of chromosome 6. The product of this gene combines with the beta-2-microglobulin and the ferritin receptor, and regulates the iron absorption in the small intestine crypt cells. It is possible that the mutation may cause the increased iron uptake by the intestinal cells. The disease is very much common in men after the forties, and its expression is influenced by concomitant alcoholism, iron rich diet, oral and parenteral iron administration, menstrual blood loss or abnormal hemorrhages, blood donations, pregnancy, lactation, and iron malabsorption clinical conditions, like celiac disease. Many patients are asymptomatic, and the diagnosis may be suspected by hepatomegaly of unknown cause, abnormal iron metabolism tests, increased serum aminotransferase levels, diabetes mellitus, and anonymous arthropathy. Less commonly hereditary hemochromatosis presented by symptoms and signs of chronic liver disease, or by the classic triad described by Trousseau skin pigmentation, hepatomegaly and diabetes mellitus. The diagnosis is confirmed by the increased serum ferritin levels and transferrin saturation, and the stainable iron in hepatocytes, measured by scale devised by Scheuer et al, or the measurement of the hepatic iron. The C282Y mutation was found in 64 to 100% of patients; eventually, subjects with hepatic iron overload identical to hereditary hemochromatosis has no mutation, and homozygous for the C282Y mutation do not express iron overload. Iron is best and quickly removed by weekly or twice-weekly phlebotomy of 500 ml, containing approximately 250 mg iron. One to 3 years of weekly phlebotomy may be required to reduce stores to normal. As a guide to long-term maintenance therapy, is recommended phlebotomy every 3 months and the serum ferritin level should be maintained by less than 50 ng/ml.
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PMID:[Hereditary hemochromatosis]. 1217 Feb 86

A 7-year-old girl presented with subcutaneous emphysema, pneumomediastinum (PM), pneumoretroperitoneum, and pneumothorax caused by Mycoplasma pneumoniae (MP). The patient had been treated with clarithromycin for pneumonia at another hospital; however, her condition deteriorated and complications developed. Soon after admission to our hospital, we started the patient on minocycline and prednisolone, and the complications improved promptly. Laboratory data showed serum ferritin and urinary beta-2-microglobulin levels were greatly elevated. We therefore speculated that the patient might have underlying hypercytokinemia. Prednisolone is an effective treatment for hypercytokinemia. We therefore recommend prednisolone treatment for cases of severe M. pneumoniae pneumonia that do not respond to antimicrobial agents.
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PMID:A 7-year-old girl with subcutaneous emphysema, pneumomediastinum, pneumothorax, and pneumoretroperitoneum caused by Mycoplasma pneumoniae pneumonia. 2190 97


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