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  • Title: Renal variant of Anderson-Fabry disease and bilateral renal cell carcinoma.
    Author: Blanco J, Herrero J, Arias LF, Garcia-Miralles N, Gamez C, Barrientos A.
    Journal: Pathol Res Pract; 2005; 200(11-12):857-60. PubMed ID: 15792133.
    Abstract:
    Anderson-Fabry disease (AFd) is an X-linked metabolic disease with clinical manifestations secondary to accumulation of glycosphingolipids in various tissues. We report the first case in which a patient with renal variant of AFd and chronic renal failure developed bilateral conventional renal cell carcinoma. His metabolic disorder was diagnosed only after histopathologic study of the kidney specimen resected because of the tumoral lesion. There is no clear etiologic relation between the metabolic and neoplastic disease. As AFd is not common or well known and its clinical manifestations tend to be nonspecific, the disorder is often unrecognized, misdiagnosed, or diagnosed late in life. The pathologist should be aware of this disorder when evaluating a kidney specimen from patients with chronic renal failure of unknown cause.
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