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Titolo:
Hereditary hemochromatosis.
Autore:
Durupt, S; Durieu, I; Nove-Josserand, R; Bencharif, L; Rousset, H; Durand, DV;
Indirizzi:
Ctr Hosp Lyon Sud, Serv Med Interne, F-69495 Pierre Benite, France Ctr Hosp Lyon Sud Pierre Benite France F-69495 495 Pierre Benite, France
Titolo Testata:
REVUE DE MEDECINE INTERNE
fascicolo: 11, volume: 21, anno: 2000,
pagine: 961 - 971
SICI:
0248-8663(200011)21:11<961:HH>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
FRE
Soggetto:
HEPATIC IRON INDEX; GENETIC HEMOCHROMATOSIS; LIVER IRON; HFE GENE; HOMOZYGOUS HEMOCHROMATOSIS; IDIOPATHIC HEMOCHROMATOSIS; TRANSFERRIN SATURATION; MUTATION ANALYSIS; ITALIAN PATIENTS; OVERLOAD;
Keywords:
genetic hemochromatosis; HFE gene; C282Y mutation; iron overload disorder;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
76
Recensione:
Indirizzi per estratti:
Indirizzo: Durupt, S Hop William Morey, Serv Med Interne, 7 Quai Hop,BP 20, F-71321 Chalon Sur Saone, France Hop William Morey 7 Quai Hop,BP 20 Chalon Sur Saone France F-71321
Citazione:
S. Durupt et al., "Hereditary hemochromatosis.", REV MED IN, 21(11), 2000, pp. 961-971

Abstract

Introduction. - Hereditary hemochromatosis is a fairly common disease in the Caucasian population, with a prevalence estimated at between 1.5 to 3/1,000 inhabitants. Over the past few years, its symptomatology has altered atpresent, ifs clinical aspect with diabetes mellitus, cirrhosis, and darkerskin pigmentation only constitutes 10% of new cases of this disease. Current knowledge and key points. - In 1996, the discovery of the C282Y mutation in the HFE gene radically altered the diagnostic approach to hereditary hemochromatosis. At present, any patient admitted with an isolated caseof asthenia, or with arthralgia or hypertransaminasemia should be examinedvia transferrin-saturation testing: if the transferrin saturation coefficient is > 45%, then the presence of the C282Y mutation should be investigated to confirm the diagnosis of hemochromatosis. A liver biopsy is no longer necessary to establish the diagnosis, but this is still useful in cases of possible cirrhosis, which is the main risk factor for hepatocellular carcinoma. Phlebotomy remains the sole recommended treatment, and should be undertaken in a case-specific manner. Family screening should be carried out forall first-degree relatives for every new case that is diagnosed. Future prospects and projects. - The discovery of the HFE gene has permitted hereditary hemochromatosis to be easily differentiated from other forms of hepatic iron overload including a new syndrome, dysmetabolic hepatosiderosis. Cases of homozygotic C282Y without hepatic iron overload have been described, but the clinical outcome of some of these cases requires further study, and adds to the controversy on whether systematic population screening should be made available. (C) 2000 Editions scientifiques et medicales Elsevier SAS.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 15/07/20 alle ore 05:28:58