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)

This review focusses on research performed by the author and coworkers. The absorption, turnover and excretion of cobalamin and the pathogenesis of cobalamin deficiency states are described and the laboratory tests used to diagnose these states are discussed. Topics dealt with in detail include: overall turnover, daily need, enterohepatic circulation and excretion of cobalamin and other corrins . The soluble proteins mediating cobalamin transport and their cellular receptors are described and their nomenclature, isolation, structure and mode of action, the role of calcium in the membrane transport, the evolution of these systems and the analogies with transport systems for other substrates are discussed together with deficiency states, especially fish tapeworm anemia and familial selective vitamin B12 malabsorption with proteinuria. Folate deficiency is a relatively rare cause of megaloblastic anemia in Scandinavia but common in North America and explanations for this difference are suggested. The methods of assaying cobalamin in serum and plasma and the performance of radiovitamin B12 absorption tests are critically evaluated. The measurement of intrinsic factor in gastric juice, serum, amniotic fluid and urine is described.
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PMID:Biochemistry and clinical chemistry of vitamin B12 transport and the related diseases. 632 50

Imerslund-Najman-Grasbeck disease is a rare inherited megaloblastic anaemia secondary to a selective malabsorption of vitamin B12 by ileal enterocytes. The authors report on a 4 year-old tunisian girl who presented as visceral infantile leishmaniasis because of huge splenomegaly and major anaemia. The diagnosis of Imerslund disease was performed on the basis of the association of typical megaloblastic cells in the marrow, permanent proteinuria and favourable outcome under parenteral B12 administration. In addition, ther were no folate deficiency, no anti-intrinsic factor antibodies and no intrinsic factor deficiency. The outcome of the disease is always favourable if parenteral administration of vitamin B12 maintained.
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PMID:[Imerslund-Najman-Grasbeck anemia. Apropos of a case]. 801 68

In this case report, a 26-year-old pregnant woman presented with headache, visual disturbances, mega-loblastic anaemia, thrombocytopenia and proteinuria in her third trimester. These symptoms were initially misinterpreted as HELLP-syndrome, but due to normal blood pressure and liver function the patient was diagnosed with severe folate deficiency despite her daily supplements of folate to avoid neural tube defects and deficiency. The reason was onset of coeliac disease during pregnancy. Careful examination may help discriminate HELLP-syndrome from folate deficiency and thus avoid preterm delivery.
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PMID:[Folate deficiency as a differential diagnosis to severe pre-eclampsia]. 3126 42