Gaucher´s disease: a rare cause of fanconi syndrome?

MUSSO, CARLOS GUIDO; REYNALDI, MARIA J.; NAVARRO, MATILDE; VILAS, MANUEL; JAUREGUI, JOSE; IMPERIALI, NORA; ALGRANATI, LUIS

Electron J Biomed

MJ Coma MD, PhD. Unidad de Investigación. Hospital General Yagüe.

Año: 2007

Gaucher´s disease consists of a genetic autosomic recesive alteration that leads to a reduction in the acid glucosil-ceramide betaglucosidaseenzyme. This enzyme brakes the glucosilceramide, a substance from which many esphingo and glucolipids are synthesized. Even though the renal compromise is not frequent in Gaucher disease, proteinuria (in nephrotic range or not) andglomerulonephritis have been described in this illness.Fanconi syndrome is charaterized by a dysfunction in the proximal tubular reabsorption. Among the etiologies of Fanconi syndrome there are many metabolic diseases, but no association has been described yet in the literature between Fanconi syndrome and Gaucher disease. We present the following case report where this association was observed.