Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The aim of this study was to examine serum levels of beta-2-microglobulin (b-2-m) in 132 children at various stages for the evaluation of celiac disease (CD). Serum b-2-m was analyzed by a radio immunoassay (RIA) method, using a beta-2-micro RIA kit (Pharmacia, Uppsala, Sweden). The mean concentration of b-2-m in children with an established diagnosis of CD was 4.38 +/- 1.86 mg/l. In children receiving a gluten-free diet, the mean b-2-m concentration was 1.95 +/- 1.09 mg/l, and in children who received a gluten-containing diet, the concentration was 3.19 +/- 0.71 mg/l. In children with CD who were on a gluten-free diet and who presented no antibodies against EmA in class IgA serum, b-2-m concentration was within the normal range (1.86 +/- 0.55 mg/l). The concentration of b-2-m in children with secondary malabsorption syndrome was within the physiological range (1.77 +/- 0.64 mg/l). In children with IgA-EmA antibodies present in serum, the b-2-m concentration was significantly higher (3.5 +/- 1.23 mg/l; P < 0.001) than that in children with IgA-EmA in serum. We showed a linear dependence between the degree of villous atrophy in CD and concentrations of b-2-m in serum (r2 = 0.94). Determination of b-2-m concentration in sera of children with CD may be used to monitor treatment with a gluten-free diet and to differentiate secondary malabsorption syndrome from CD.
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PMID:Estimation of serum beta-2-microglobulin in children with malabsorption disorders syndrome. 921 43

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