title: [Renal lesions in patients with Fabry's disease].
abstract: Kidney involvement is one of the main manifestations of Fabry's disease. In the absence of enzyme replacement therapy, hemizygous males and some heterozygous females progress to end stage renal failure. In hemizygous males, diffuse glycolipid accumulation is observed in all glomerular and vascular cells whereas distal tubular cells are focally involved. In heterozygous females, the glycolipid storage is irregular in glomeruli and vessels, some cells being massively involved, others being normal. In both sexes, degenerative changes occur, linked to the necrosis of overloaded mesangial and vascular smooth muscle cells. Their progression leads to unspecific arteriopathy and glomerulosclerosis not prone to reverse under enzymotherapy. Kidney biopsy is useful for confirming the diagnosis if clinical presentation of Fabry's disease is atypical. Moreover, histological analysis of renal tissue allows to assess the severity of degenerative changes and to evaluate the beneficial impact of enzyme replacement therapy.
authors.affiliation: Inserm U574, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Hôpital Necker Enfants Malades, 149 rue de Sèvres 75743 Paris cedex 15, France. marie-claire.gubler@inserm.fr
authors.forename: M-C
authors.initials: MC
authors.lastname: Gubler
mesh_terms: D001706:Biopsy; D018450:Disease Progression; D056947:Enzyme Replacement Therapy / Q000379:methods; D000795:Fabry Disease / Q000150:complications* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D005260:Female; D057898:Hemizygote; D006579:Heterozygote; D006801:Humans; D007674:Kidney Diseases / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics / Q000473:pathology*; D007676:Kidney Failure, Chronic / Q000209:etiology; D007678:Kidney Glomerulus / Q000473:pathology*; D008297:Male; D011379:Prognosis; D012307:Risk Factors; D012720:Severity of Illness Index; D016896:Treatment Outcome; D000519:alpha-Galactosidase / Q000627:therapeutic use
chemical_list: D000519:alpha-Galactosidase