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26-Oct-2010
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Arch Hellen Med, 27(5), September-October 2010, 828-833 SHORT COMMUNICATION Cardiac variant of Fabry's disease with low residual enzyme activity C. PALIOURAS,1 G. APERIS,1 L. NAKOPOULOU,2 A. ARVANITIS,1 A. ZERVOS,1 N. KARVOUNIARIS,1 P. ALIVANIS1 |
Fabry's disease is an X-linked lysosomal storage disorder in which deficiency of the hydrolase alpha-galactosidase A in the lysosomes result in accumulation of globotriaosylceramide in various cells and tissues. Several hundreds of different mutations in the alpha-galactosidase A gene have been described. Multiple organs may be affected and there are many clinical variants of the disorder. The diagnosis is often delayed by more than ten years. The prognosis depends on the organs affected, the age at onset and the time of initiation of enzyme replacement therapy. A rare case is reported of Fabry's disease presenting with proteinuria, which initially gave the impression of glomerulopathy. Renal biopsy revealed changes consistent with lysosomal storage disorder and subsequently, the activity of alpha-galactosidase A was found to be low in the plasma and leukocytes. DNA analysis showed the N215S mutation in the gene for alpha-galactosidase A, which characterizes cardiac variants of Fabry's disease. The patient received treatment with agalsidase β which resulted in stabilization of his renal function.
Key words: Agalsidase β, Alpha-galactosidase A, Cardiac involvement, Fabry's disease, N215S mutation, Proteinuria.
