Artigo Revisado por pares

Isolated glomerular proteinuria as the only clinical manifestation of Fabry's disease in an adult male

1997; Oxford University Press; Volume: 12; Issue: 1 Linguagem: Inglês

10.1093/ndt/12.1.221

ISSN

1460-2385

Autores

Mietta Meroni, C Spisni, S. Tazzari, Roberto Di Vito, A. Stingone, I. Bovan, Laura Torri Tarelli, Adalberto Sessa,

Tópico(s)

Glycogen Storage Diseases and Myoclonus

Resumo

Key words: Fabry disease; glomerular proteinuria; lipid involvement, and the third phase involves vascular,storage diseases; hereditary kidney diseases; glyco- cardiac, and cerebral disease and renal functionalsphingolipids; alpha-galactosidase A; angiokeratomas; deterioration.acroparaesthesias; corneal opacities Death occurs around the fifth decade from renal,cardiac, and cerebral complications. Nevertheless, clin-ical evidence supports phenotypic heterogeneity ofFabry’s disease, and genetic heterogeneity has been

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