Fabry's diseases (FD) is a rare X-linked lipid storage disorder due to a deficient lysosomal a-galactosidase A (a-GAL) activity. In males with the classic phenotype this metabolicleads to the intracellular accumulation of neutral GL throughout the body, mainly in kidney, heart and brain causing severe multisystemic failure. Heterozygous females are generally asymptomatic carriers and reanl biopsy is rarely performed. Conclusions: In female carriers of the Fabry's gene, renal biopsy should be considered if there is persistent proteinuria.
Fabry disease: the role of renal biopsy in three females with mild clinical symptoms / C. Comotti, A. Tosoni, M. Nebuloni, M. Mazzoni, C. Rovati. ((Intervento presentato al 6th. convegno European round table on Faby disease tenutosi a Geneva nel 2005.
Fabry disease: the role of renal biopsy in three females with mild clinical symptoms
M. Nebuloni;
2005
Abstract
Fabry's diseases (FD) is a rare X-linked lipid storage disorder due to a deficient lysosomal a-galactosidase A (a-GAL) activity. In males with the classic phenotype this metabolicleads to the intracellular accumulation of neutral GL throughout the body, mainly in kidney, heart and brain causing severe multisystemic failure. Heterozygous females are generally asymptomatic carriers and reanl biopsy is rarely performed. Conclusions: In female carriers of the Fabry's gene, renal biopsy should be considered if there is persistent proteinuria.
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