Urol. praxi, 2013; 14(3): 129-130 [Onkologie. 2013:7(2):92-94]

The coincidence of renal cell carcinoma and gaucher disease

MUDr.Štěpán Tuček, MUDr.Jiří Tomášek

Masarykův onkologický ústav, Brno

The article describes a case of a patient with a very rare benign storage disease appearing in skelet that was imitating a metastatic

spread of an advanced renal cell carcinoma. Even a very unlikely case of coincidence of rare diseases can be real in the clinical practice.

Such a situation can lead to an erroneous diagnostic workup. The Gaucher disease is a disease with various possible forms. Some as the

juvenile form can be serious with severe developmental limitations- and some as the adult form can rather be with lighter symptoms or

inapparent at all. The diagnostics and treatment have developed a lot over the past years. The highest incidence of kidney malignancies

in the world is in the Czech Republic, unfortunatelly. It is a chemoresistant and radioresistant disease. The early stages can be cured by

surgery. The advanced stages are incurable, despite the attribution of the new targeted therapies in the recent years.

Keywords: renal cell carcinoma, metastatic, Gaucher disease

Published: July 15, 2013  Show citation