[Enzyme replacement therapy in Fabry's disease].
We report a 56-year-old man with history of chronic renal failure, who was diagnosed to have Fabry's disease after performing a percutaneous kidney biopsy. The diagnosis was confirmed by the deficient level of activity of alpha-galactosidase A and by the identification of the mutation. A enzime replacement therapy with alpha-galactosidase A was administered. After 18 months of treatment, a second kidney biopsy was performed showing renal deposits of globotriaosylceramide (we did not evaluate the percentage of histologic clearance of the deposits). Six months after the end of the therapy, a reduction in the impairment of renal function is observed, and the classic manifestations of the disease are absent.
Alvarez
L
L
Secci6n de Nefrología, Hospital de Alcoy, Alicante.
del Pozo
C
C
Trigueros
M
M
Sánchez
L
L
Albero
M D
MD
López-Menchero
R
R
Ortega
E
E
D000328:Adult; D001706:Biopsy; D000795:Fabry Disease / Q000175:diagnosis / Q000188:drug therapy* / Q000201:enzymology / Q000235:genetics; D005500:Follow-Up Studies; D005915:Globosides / Q000032:analysis; D006801:Humans; D007668:Kidney / Q000737:chemistry / Q000473:pathology; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000473:pathology; D008297:Male; D008875:Middle Aged; D012074:Remission Induction; D000519:alpha-Galactosidase / Q000235:genetics / Q000627:therapeutic use*
D005915:Globosides; C024032:globotetraosylceramide; D000519:alpha-Galactosidase