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Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy

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An Erratum to this article was published on 30 May 2009

An Erratum to this article was published on 30 May 2009

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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Acknowledgements

Carmen Valbuena and João Paulo Oliveira were equal contributors to this article. Carmen Valbuena is recipient of a non-restricted research grant from Genzyme Portugal. David G. Warnock provided encouragement and strongly supported this project.

Conflict of interest statement

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Department of Pathology, Hospital São João, Porto, Portugal

    Carmen Valbuena, Mariana Ganhão, Sandra Relvas & Fátima Carneiro

  2. Department of Pathology, Faculty of Medicine, University of Porto, Porto, Portugal

    Carmen Valbuena & Fátima Carneiro

  3. Department of Nephrology, Hospital São João, Porto, Portugal

    Elísio Carvalho, Manuela Bustorff & João Paulo Oliveira

  4. Department of Pathology, Centro Hospitalar de Gaia, Vila Nova de Gaia, Portugal

    Rosete Nogueira

  5. Department of Pathology, Institute of Molecular Pathology and Immunology (IPATIMUP), University of Porto, Porto, Portugal

    Fátima Carneiro

  6. Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal

    João Paulo Oliveira

  7. Serviço de Anatomia Patológica, Hospital São João, Alameda Hernâni Monteiro, 4200-319, Porto, Portugal

    Carmen Valbuena

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  1. Carmen Valbuena
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Correspondence to Carmen Valbuena.

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An erratum to this article can be found at http://dx.doi.org/10.1007/s00428-009-0779-x

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Valbuena, C., Carvalho, E., Bustorff, M. et al. Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy. Virchows Arch 453, 329–338 (2008). https://doi.org/10.1007/s00428-008-0653-2

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