Doenças Genéticas com Sobrecarga de Ferro

Autores

  • Luís Costa Matos Serviço de Medicina 1 do Centro Hospitalar Tondela, Viseu
  • Paulo Batista Serviço de Medicina 1 do Centro Hospitalar Tondela, Viseu
  • Nuno Monteiro Serviço de Medicina 1 do Centro Hospitalar Tondela, Viseu
  • Pedro Henriques Serviço de Medicina 1 do Centro Hospitalar Tondela, Viseu
  • Fernando Girão Serviço de Medicina 1 do Centro Hospitalar Tondela, Viseu
  • Armando de Carvalho Serviço de Medicina 1 do Centro Hospitalar Tondela, Viseu

Palavras-chave:

Ferro, HFE, hemocromatose, hepcidina

Resumo

A hemocromatose hereditária tipo I é uma das doenças genéticas
mais frequentes do ser humano, estimando-se que, em média,
1:260 da população caucasiana sofre deste distúrbio. No nosso
país, é especialmente prevalente no norte. Tem contudo uma
penetrância bastante variável e manifestações clínicas variadas,
atingindo vários aparelhos e sistemas, devendo o internista estar
familiarizado com esta patologia. Juntamente com as outras
doenças genéticas hemocromatósicas, a hepcidina, o peptídeo
central regulador do metabolismo do ferro, desempenha um papel
fundamental. Fazemos uma revisão das várias doenças genéticas
associadas com sobrecarga de ferro

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29-03-2013

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Costa Matos L, Batista P, Monteiro N, Henriques P, Girão F, de Carvalho A. Doenças Genéticas com Sobrecarga de Ferro. RPMI [Internet]. 29 de Março de 2013 [citado 27 de Maio de 2024];20(1):48-56. Disponível em: https://revista.spmi.pt/index.php/rpmi/article/view/1067

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