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  • Title: The renal lesion in angiokeratoma corporis diffusum (Fabry's disease).
    Author: HENRY EW, RALLY CR.
    Journal: Can Med Assoc J; 1963 Aug 03; 89(5):206-13. PubMed ID: 13953819.
    Abstract:
    Electron microscopic details of the glomerular and tubular lesions in a 26-year-old man with angiokeratoma corporis diffusum are presented. Though unable to concentrate urine above a specific gravity of 1.012, this patient showed preservation of the ability to acidify and alkalinize the urine following oral loads of ammonium chloride (150 mEq./day) and sodium bicarbonate (158 mEq./day) for several days. This observation is in contrast to previously reported findings and suggests that the regularly observed hyposthenuria in this disease does not depend on defects in ion transfer in the distal tubule system.
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