Renal ultrastructural findings in Anderson-Fabry disease

Adalberto Sessa, Antonella Tosoni, Manuela Nebuloni, Francesco Pallotti, Ferdinando Giordano, Graziana Battini, Alessia Maglio, Mietta Meroni, Gilberto Calconi, Gabriele Bertolone, Pierlucio Gatti

Research output: Contribution to journalArticle

32 Citations (Scopus)

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: α-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.

Original languageEnglish
Pages (from-to)109-112
Number of pages4
JournalJournal of Nephrology
Volume15
Issue number2
Publication statusPublished - 2002

Fingerprint

Fabry Disease
Glycosphingolipids
Kidney
Neutral Glycosphingolipids
Galactosidases
Onions
Equidae
Body Fluids
Hydrolases
Metabolic Networks and Pathways
Chronic Kidney Failure
Electrons
Skin
Enzymes
Therapeutics

Keywords

  • α-galactosidase A deficiency
  • End stage renal failure
  • Fabry disease
  • Glycospholipid disease
  • Hereditary kidney diseases
  • Lysosomal storage disorder
  • Proteinuria

ASJC Scopus subject areas

  • Nephrology

Cite this

Sessa, A., Tosoni, A., Nebuloni, M., Pallotti, F., Giordano, F., Battini, G., ... Gatti, P. (2002). Renal ultrastructural findings in Anderson-Fabry disease. Journal of Nephrology, 15(2), 109-112.

Renal ultrastructural findings in Anderson-Fabry disease. / Sessa, Adalberto; Tosoni, Antonella; Nebuloni, Manuela; Pallotti, Francesco; Giordano, Ferdinando; Battini, Graziana; Maglio, Alessia; Meroni, Mietta; Calconi, Gilberto; Bertolone, Gabriele; Gatti, Pierlucio.

In: Journal of Nephrology, Vol. 15, No. 2, 2002, p. 109-112.

Research output: Contribution to journalArticle

Sessa, A, Tosoni, A, Nebuloni, M, Pallotti, F, Giordano, F, Battini, G, Maglio, A, Meroni, M, Calconi, G, Bertolone, G & Gatti, P 2002, 'Renal ultrastructural findings in Anderson-Fabry disease', Journal of Nephrology, vol. 15, no. 2, pp. 109-112.
Sessa A, Tosoni A, Nebuloni M, Pallotti F, Giordano F, Battini G et al. Renal ultrastructural findings in Anderson-Fabry disease. Journal of Nephrology. 2002;15(2):109-112.
Sessa, Adalberto ; Tosoni, Antonella ; Nebuloni, Manuela ; Pallotti, Francesco ; Giordano, Ferdinando ; Battini, Graziana ; Maglio, Alessia ; Meroni, Mietta ; Calconi, Gilberto ; Bertolone, Gabriele ; Gatti, Pierlucio. / Renal ultrastructural findings in Anderson-Fabry disease. In: Journal of Nephrology. 2002 ; Vol. 15, No. 2. pp. 109-112.
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