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01.10.2008 | Original Article

Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy

verfasst von: Carmen Valbuena, Elísio Carvalho, Manuela Bustorff, Mariana Ganhão, Sandra Relvas, Rosete Nogueira, Fátima Carneiro, João Paulo Oliveira

Erschienen in: Virchows Archiv | Ausgabe 4/2008

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Abstract

Fabry disease is an X-linked glycosphingolipidosis caused by deficiency of alpha-galactosidase. Progressive chronic kidney disease (CKD) is a major cause of morbidity and mortality in males. Although 40% of heterozygous females may develop renal involvement, pathologic data on Fabry nephropathy in heterozygotes are scarce. We reviewed the kidney biopsies of four affected females who had normal to slightly sub-normal renal function, two of them with overt proteinuria. Chronic non-specific degenerative lesions and glycosphingolipid accumulation per cell type were semi-quantitatively assessed by light and electron microscopy. Cellular distribution of glycosphingolipid deposits was best assessed on semithin sections. Podocyte effacement was seen only in proteinuric patients. Combined analysis of our data with those of two earlier series showed that glomerular sclerosis and tubulointerstitial fibrosis are predictors of proteinuria and CKD stage. There was no histopathological evidence supporting a major role of vascular damage in the early pathogenesis of Fabry nephropathy in females.

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Titel: Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy
verfasst von: Carmen Valbuena
Elísio Carvalho
Manuela Bustorff
Mariana Ganhão
Sandra Relvas
Rosete Nogueira
Fátima Carneiro
João Paulo Oliveira
Publikationsdatum: 01.10.2008
Verlag: Springer-Verlag
Erschienen in: Virchows Archiv / Ausgabe 4/2008
Print ISSN: 0945-6317
Elektronische ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-008-0653-2

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