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Gaucher disease and Lupus: a rare association?

Jerónimo, Teresa; Cabrita, Ana; Pimentel, Ana; Vidinha, Joana; Fragoso, Andre; Santos, Viriato; Bernardo, Idalecio; Viana, Helena; Carvalho, Fernanda

Gaucher disease (GD), is an autosomal recessive lysosomal storage disease that is due to mutations in the glucocerebrosidase (GC) gene, with a prevalence of 1/57,000 to 1/75,000 births worldwide and significantly more common among the Ashkenazi Jewish heritage. GD is categorized into three clinical types4 and the clinical manifestations result from the accumulation of the lipid-laden macrophages in the spleen, ...


Obesity and the kidney.

Guedes, Anabela Malho; Cabrita, Ana; Pinho, Ana Teixeira; Silva, Ana Paula; Lopes, Ana; Santos, Viriato; Neves, Pedro Leão

Obesity represents an important risk factor for the development of chronic kidney disease (CKD), due to its known strong association with diabetes mellitus and hypertension, the two major causes of CKD, but also as an independent renal risk factor. This direct relationship between obesity and kidney injury has been undervalued. The aim of this revisión is to point out the mechanisms of kidney injury induced by ...

Date: 2010   |   Origin: Acta Médica Portuguesa

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