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1.
Rev. méd. Maule ; 37(2): 49-54, dic. 2022. ilus
Artigo em Espanhol | LILACS | ID: biblio-1428359

RESUMO

Hemochromatosis (HC) is a disorder that alters the body's ability to metabolize iron, increasing its absorption, causing iron overload, and consequently an accumulation of the mineral in multiple organs such as the liver, heart, and pancreas. The amount of total iron in the body is 2-4 g in healthy individuals and remains within these limits throughout life thanks to the control of intestinal absorption. In patients with CH, this amount is increased by at least 10 times, which translates into body deposits of 20-40 grams of iron on average. Factors that increase the risk of having HC: having two copies of the mutated HFE gene, family history, ethnicity or ancestry from Northern Europe (less common in blacks, Hispanics, and Asians), and male gender.


Assuntos
Humanos , Pessoa de Meia-Idade , Hemocromatose/diagnóstico , Hemocromatose/fisiopatologia , Sinais e Sintomas , Transplante de Fígado , Insuficiência Cardíaca , Hemocromatose/terapia , Hemossiderose , Ferro
2.
Rev. méd. Maule ; 37(2): 63-69, dic. 2022. ilus
Artigo em Espanhol | LILACS | ID: biblio-1428507

RESUMO

Neuromuscular diseases represent a rare cause of dilated myocardiopathy, among them Duchenne muscular dystrophy is the most common. Transthoracic echocardiography and cardiac magnetic resonance imaging can assess cardiac involvement early. The case of a patient diagnosed with Duchenne muscular dystrophy who develops cardiac involvement during cardiology follow-up is presented below.


Assuntos
Humanos , Masculino , Adulto , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Duchenne/terapia , Cardiomiopatia Dilatada , Distrofina/genética , Distrofia Muscular de Duchenne/classificação , Distrofia Muscular de Duchenne/fisiopatologia , Diagnóstico Diferencial , Insuficiência Cardíaca
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