Ron Metabolism and the Athophysiology of Hemochromatosis
نویسندگان
چکیده
riginally regarded as a rare affliction notable for its distinctive evolution to “bronze diabetes,” hereditary emochromatosis is now recognized as the most common genetic disorder in populations of European ncestry. Recent advances in our understanding of iron metabolism, the identification of the gene esponsible for hemochromatosis, and large epidemiologic studies have changed the diagnostic approach oward patients with hereditary hemochromatosis and other forms of iron overload. This article reviews the athophysiology, epidemiology, clinical features, diagnostic testing, and management of hemochromatosis or the primary care provider. © 2006 Elsevier Inc. All rights reserved.
منابع مشابه
Non-HFE hemochromatosis: pathophysiological and diagnostic aspects.
Rare genetic iron overload diseases are an evolving field due to major advances in genetics and molecular biology. Genetic iron overload has long been confined to the classical type 1 hemochromatosis related to the HFE C282Y mutation. Breakthroughs in the understanding of iron metabolism biology and molecular mechanisms led to the discovery of new genes and subsequently, new types of hemochroma...
متن کاملCurrent approach to hereditary hemochromatosis
Hereditary hemochromatosis refers to several inherited disorders of the iron metabolism that lead to tissue iron overload. Classical hereditary hemochromatosis is associated with mutations of the HFE gene (C282Y homozygotes or C282Y/H63D compound heterozygotes) and is almost exclusively found in populations of northern European descent. Non-HFE-associated hereditary hemochromatosis is caused by...
متن کاملIron is hot: an update on the pathophysiology of hemochromatosis.
GENETIC IRON OVERLOAD disorders are prevalent yet poorly understood. Over the past 3 years, the discoveries of the hereditary hemochromatosis gene and an intestinal iron transporter have significantly advanced our understanding of iron metabolism. Furthermore, they have suggested novel links between molecules involved in immune defense and iron homeostasis. These findings lay the foundation for...
متن کاملAn unusual presentation of seborrheic keratoses in a man with hereditary hemochromatosis.
Hereditary hemochromatosis is an autosomal recessive disorder that disturbs iron metabolism and results in iron deposition throughout the body. Iron accumulation in various organs may cause a wide range of systemic symptoms and cutaneous manifestations of the disease are particularly striking. Classically, hereditary hemochromatosis has been termed "bronze diabetes." Although diffuse hyperpigme...
متن کاملIron overload in porphyria cutanea tarda.
BACKGROUND AND OBJECTIVE Porphyria cutanea tarda (PCT) is a disorder of porphyrin metabolism associated with decreased activity of uroporphyrinogen decarboxylase (URO-D) in the liver. The relevance of iron in the pathogenesis of PCT is well established: iron overload is one of the factors that trigger the clinical manifestations of the disease and iron depletion remains the cornerstone of thera...
متن کامل