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)

Most patients with iron deficiency anemia are treated effectively with oral iron preparations. However, a small number of these patients are refractory to such treatments, even when the pathologic condition underlying the anemia is concurrently treated. The pathological basis for this refractoriness can be explained by several factors, including malabsorption of iron, e.g. atrophic gastritis, deficiency of other hematopoietic vitamins or minerals, e.g. vitamin B12 or zinc, other undiagnosed anemic disorders, e.g. renal anemia or hematopoietic diseases, as well as certain hereditary disorders of iron metabolism, e.g. iron refractory iron deficiency anemia (IRIDA) caused by genetic mutation of the TMPRSS6 gene. This review focuses on the diagnosis and pathoetiology of iron deficiency anemia that is refractory to conventional oral iron preparations.
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PMID:Iron deficiency anemia refractory to iron preparations. 2772 84

Hepcidin is a key molecule that regulates iron metabolism in the body. Iron refractory iron deficiency anemia (IRIDA) is a genetic disorder caused by a defect in the TMPRSS6 gene encoding matriptase-2, a transmembrane serine protease that physiologically inhibits hepcidin production. In patients with IRIDA, the iron uptake in the intestine is remarkably reduced, and iron deficiency anemia (IDA) develops. However, in contrast to the ordinary IDA, high hepcidin levels in IRIDA keep the serum ferritin levels normal or sometimes high. Due to the malabsorption of iron in the intestine, IRIDA is refractory to oral iron supplementation, but partially responds to parenteral iron administration. A high hepcidin level gives IRIDA a lot of similarities with anemia of chronic disease, and a differential diagnosis between the two disorders needs careful inspection. Diagnosis of IRIDA needs genetic testing that is hardly available in most facilities, and therefore its clinical features are not fully understood.
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PMID:[Iron metabolism and iron-refractory iron deficiency anemia]. 3250 12