[Fabry's disease: kidney insufficiency in heterozygous patient].
We report a rare heterozygous status for Fabry's gene with severe kidney involvement and normal alpha-galactosidase A activity, together with the intrafamilial variations in the clinical expression of the disease. The random X inactivation hypothesis seems to explain such a variable expression of the alpha-galactosidase gene in our cases.
Pravatà
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Pinto
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Noto
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Aricò
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D000328:Adult; D000795:Fabry Disease / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D005192:Family Health; D005260:Female; D006580:Genetic Carrier Screening; D006579:Heterozygote; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology*; D000519:alpha-Galactosidase / Q000378:metabolism
D000519:alpha-Galactosidase
Malattia di Fabry: insufficienza renale in eterozigote.