Fabry Disease with Few Clinical Signs and Symptoms.
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概要
- 論文の詳細を見る
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)
- 社団法人 日本内科学会の論文
著者
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Katoh Tetsuo
Department Of Internal Medicine Iii Fukushima Medical University School Of Medicine
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Asahi Koichi
Department Of Internal Medicine Iii Fukushima Medical University School Of Medicine
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Watanabe Kazuo
Department Of Biology Faculty Of Science Osaka University
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Watanabe Tsuyoshi
Department Of Anatomy Asahikawa Medical University
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KATOH Tetsuo
Departments of Internal Medicine III, Fukushima Medical University School of Medicine
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