5 documents found, page 1 of 1

Genetic Diseases Associated with Iron Overload

Hereditary hemochromatosis type I is one of the most common human genetic diseases estimating that in average around 1:260 of the Caucasian population is affected by such disease. In our country, occurs mainly in the northern territory. Despite that, hereditary hemochromatosis has a variable penetrance and clinical manifestations, affecting several organs and systems, therefore internists should be aware of suc...

Paget’s disease of the breast

Hfe mutations and iron overload in patients with alcoholic liver disease

Context - Alcoholic liver disease (ALD) is generally associated with iron overload, which may contribute to its pathogenesis, through increased oxidative stress and cellular damage. There are conflicting reports in literature about hemochromatosis (HFE) gene mutations and the severity of liver disease in alcoholic patients. Objectives - To compare the prevalence of mutations in the hemochromatosis (HFE) gene be...

The Diagnostic Challenge of a Rare Pulmonary Neoplasm

Primary pulmonary sarcomas account for less than 0.5% of all thoracic neoplasms. They’re aggressive tumors arising in mesenchymal cells from the bronchial walls, vessels or pulmonary interstitium. The authors present a patient in which the diagnostic pathway ended with the diagnosis of a primary pulmonary leiomyosarcoma. This case was a true challenge, illustrative of the difficulty associated with this type of...

A family with a rare disease.

Fabry disease (FD) is a rare disorder resulting from mutations of the alpha-Galactosidase A lysosomal enzyme gene. Accumulation of enzyme substrates leads to multisystemic clinical manifestations and multiorgan progressive damage with high morbidity and mortality. Recombinant enzyme replacement therapy (RERT) now available aims to delay or even avoid the complications of FD. The index case was a 50-year-old man...