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Titolo:
Prevalence of hereditary haemochromatosis in late-onset type 1 diabetes mellitus: a retrospective study
Autore:
Ellervik, C; Mandrup-Poulsen, T; Nordestgaard, BG; Larsen, LE; Appleyard, M; Frandsen, M; Petersen, P; Schlichting, P; Saermark, T; Tybjaerg-Hansen, A; Birgens, H;
Indirizzi:
Univ Copenhagen, Herlev Hosp, Dept Haematol, DK-2730 Herlev, Denmark Univ Copenhagen Herlev Denmark DK-2730 Haematol, DK-2730 Herlev, Denmark Univ Copenhagen, Herlev Hosp, Dept Clin Biochem, DK-2730 Herlev, Denmark Univ Copenhagen Herlev Denmark DK-2730 Biochem, DK-2730 Herlev, Denmark Univ Copenhagen, Herlev Hosp, Dept Gastroenterol C, DK-2730 Herlev, Denmark Univ Copenhagen Herlev Denmark DK-2730 nterol C, DK-2730 Herlev, Denmark Steno Diabet Ctr, DK-2820 Gentofte, Denmark Steno Diabet Ctr Gentofte Denmark DK-2820 Ctr, DK-2820 Gentofte, Denmark Bispebjerg Univ Hosp, Copenhagen City Heart Study, Copenhagen, Denmark Bispebjerg Univ Hosp Copenhagen Denmark eart Study, Copenhagen, Denmark Univ Copenhagen, Univ Copenhagen Hosp, Dept Clin Biochem, Copenhagen, Denmark Univ Copenhagen Copenhagen Denmark pt Clin Biochem, Copenhagen, Denmark
Titolo Testata:
LANCET
fascicolo: 9291, volume: 358, anno: 2001,
pagine: 1405 - 1409
SICI:
0140-6736(20011027)358:9291<1405:POHHIL>2.0.ZU;2-3
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEMOCHROMATOSIS GENE-MUTATIONS; C282Y MUTATION; EXPRESSION; POPULATION; HFE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
29
Recensione:
Indirizzi per estratti:
Indirizzo: Birgens, H Univ Copenhagen, Herlev Hosp, Dept Haematol, DK-2730 Herlev, Denmark Univ Copenhagen Herlev Denmark DK-2730 K-2730 Herlev, Denmark
Citazione:
C. Ellervik et al., "Prevalence of hereditary haemochromatosis in late-onset type 1 diabetes mellitus: a retrospective study", LANCET, 358(9291), 2001, pp. 1405-1409

Abstract

Background Although genotyping studies suggest that hereditary haemochromatosis is one of the most common genetic disorders in white people, it is still thought of as an uncommon disease. Our aim was to test the hypothesis that hereditary haemochromatosis is a disease often overlooked in patients with late-onset type 1 diabetes mellitus, a late manifestation of untreated iron overload. Methods We did a retrospective study in which we genotyped for the C282Y and H63D mutations in the haemochromatosis gene in 716 unselected Danish patients who developed type I diabetes mellitus after age 30 years and 9174 controls from the general Danish population. We also screened for hereditary haemochromatosis by assessment of transferrin saturation. Findings More patients with diabetes (n=9, relative frequency 1.26%, 95% CI 0.58-2.37) than controls (23, 0.25%, 0.16-0.38) were homozygous for C282Y(odds ratio 4.6, 2.0-10.1, p=0.0001). These patients had unrecognised signs of haemochromatosis. Transferrin saturation and ferritin concentrations ranged from 57% to 102% and 17 mug/L to 8125 mug/L, respectively. Frequency of compound heterozygosity (C282Y/H63D) did not differ between patients with diabetes (eight) and controls (131) (odds ratio 0.8, 95% CI 0.4-1.7). Positive and negative predictive values of transferrin saturation greater than50%, in identification of C282Y homozygosity, were 0.26 and 1.00, respectively. A saturation of less than 50% therefore excluded C282Y homozygosity, whereas a saturation of more than 50% suggested C282Y homozygosity. Interpretation Measurement of transferrin saturation followed by genetic testing could prevent liver and heart problems and improve life expectancy in patients with diabetes. Population screening before the onset of diabetesmight improve the outlook of patients even further, but will be less cost effective.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 10/07/20 alle ore 14:49:03