title: Renal ultrastructural findings in Anderson-Fabry disease.
abstract: 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.
authors.affiliation: Division of Nephrology and Dialysis, Vimercate Hospital, Italy.
authors.forename: Adalberto
authors.initials: A
authors.lastname: Sessa
authors.forename: Antonella
authors.initials: A
authors.lastname: Toson
authors.forename: Manuela
authors.initials: M
authors.lastname: Nebuloni
authors.forename: Francesco
authors.initials: F
authors.lastname: Pallotti
authors.forename: Ferdinando
authors.initials: F
authors.lastname: Giordano
authors.forename: Graziana
authors.initials: G
authors.lastname: Battini
authors.forename: Alessia
authors.initials: A
authors.lastname: Maglio
authors.forename: Mietta
authors.initials: M
authors.lastname: Meroni
authors.forename: Gilberto
authors.initials: G
authors.lastname: Calconi
authors.forename: Gabriele
authors.initials: G
authors.lastname: Bertolone
authors.forename: Pierlucio
authors.initials: P
authors.lastname: Gatti
mesh_terms: D041321:Chromosomes, Human, X; D018450:Disease Progression; D000795:Fabry Disease / Q000150:complications / Q000473:pathology*; D006801:Humans; D007668:Kidney / Q000648:ultrastructure*; D007676:Kidney Failure, Chronic / Q000209:etiology* / Q000473:pathology; D008854:Microscopy, Electron