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Renal complications of Fabry disease in children

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Abstract

Fabry disease is an X-linked α-galactosidase A deficiency, resulting in accumulation of glycosphingolipids, especially globotriaosylceramide, in cells in different organs in the body. Renal failure is a serious complication of this disease. Fabry nephropathy lesions are present and progress in childhood while the disease commonly remains silent by routine clinical measures. Early and timely diagnosis of Fabry nephropathy is crucial since late initiation of enzyme replacement therapy may not halt progressive renal dysfunction. This may be challenging due to difficulties in diagnosis of Fabry disease in children and absence of a sensitive non-invasive biomarker of early Fabry nephropathy. Accurate measurement of glomerular filtration rate and regular assessment for proteinuria and microalbuminuria are useful, though not sensitive enough to detect early lesions in the kidney. Recent studies support the value of renal biopsy in providing histological information relevant to kidney function and prognosis, and renal biopsy could potentially be used to guide treatment decisions in young Fabry patients. This review aims to provide an update of the current understanding, challenges, and needs to better approach renal complications of Fabry disease in children.

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Acknowledgments

This work was supported by grants from NIH (5U54NS065768-02) and Genzyme Corporation, a Sanofi company.

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Authors and Affiliations

  1. Department of Pathology, University of Washington, Box 356100, 1959 NE Pacific St., Seattle, WA, 98195, USA

    Behzad Najafian

  2. Departments of Pediatrics and Medicine, University of Minnesota, Minneapolis, MN, USA

    Michael Mauer

  3. Division and Program in Human Genetics, Cincinnati Children’s Research Foundation, Cincinnati, OH, USA

    Robert J. Hopkin

  4. Department of Medicine, Haukeland University Hospital, and Institute of Medicine, University of Bergen, Bergen, Norway

    Einar Svarstad

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  1. Behzad Najafian
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  2. Michael Mauer
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Correspondence to Behzad Najafian.

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Najafian, B., Mauer, M., Hopkin, R.J. et al. Renal complications of Fabry disease in children. Pediatr Nephrol 28, 679–687 (2013). https://doi.org/10.1007/s00467-012-2222-9

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