Anderson-Fabry disease (AFd) is caused by an X-linked inborn error in the glycosphingoLipid metabolic pathway due to an enzymatic defect in a lysosomal hydrolase: alpha-galactosidase A. The defect results in the progressive accumulation of neutral glycosphingolipids in most body fluids and several tissues. The clinical manifestations of AFd are related to organ damage and, obviously, are more severe in hemizygous males than in heterozygous females. In the third decade of life, the course of the disease involves severe deterioration of kidney function progressing to end-stage renal failure. All kind of cells of renal structures are filled with glycosphingolipid deposits. Electron microscopic studies document typical intracytoplasmic osmiophilic bodies with a characteristic "zebra" or "onion-skin" appearance due to concentric lamellation of alternating clear and dark layers. Clinical interest in Fabry patients is related to recent advances in treatment with an intravenous specific enzyme to modify the biochemical error of the glycosphingolipid catabolic pathway.
|Titolo:||Renal ultrastructural findings in Anderson-Fabry disease|
|Autori interni:||NEBULONI, MANUELA|
|Parole Chiave:||α-galactosidase A deficiency; End stage renal failure; Fabry disease; Glycospholipid disease; Hereditary kidney diseases; Lysosomal storage disorder; Proteinuria|
|Data di pubblicazione:||2002|
|Appare nelle tipologie:||01 - Articolo su periodico|