Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
Fabry Disease with Few Clinical Signs and Symptoms
Koichi ASAHITetsuo KATOHKazuo WATANABETsuyoshi WATANABE
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2002 Volume 41 Issue 11 Pages 983-985

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Abstract

We describe a 25-year-old man with Fabry disease who remained undiagnosed until progressive renal involvement had begun, because of few clinical signs or symptoms except intermittent acroparesthesia. He had non-nephrotic proteinuria and normal renal function. Renal biopsy revealed focal and segmental glomerular sclerosis with vacuolated podocytes. Electron microscopy demonstrated characteristic lamellated bodies. α-Galactosidase A (α-galA) activity was markedly decreased. Early diagnosis of Fabry disease is becoming important because of the prospect of recombinant α-galA replacement therapy. Careful history taking, physical examinations, and renal histology with electron microscopy are essential for the diagnosis in the course of the disease.
(Internal Medicine 41: 983-985, 2002)

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© The Japanese Society of Internal Medicine
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