title: [Fabry's disease: kidney insufficiency in heterozygous patient].
abstract: 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.
authors.forename: G
authors.initials: G
authors.lastname: Pravatà
authors.forename: G
authors.initials: G
authors.lastname: Pinto
authors.forename: G
authors.initials: G
authors.lastname: Noto
authors.forename: M
authors.initials: M
authors.lastname: Aricò
mesh_terms: 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
chemical_list: D000519:alpha-Galactosidase
vernacular_title: Malattia di Fabry: insufficienza renale in eterozigote.