Fabry disease with few clinical signs and symptoms.
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. Alpha-galactosidase A (alpha-galA) activity was markedly decreased. Early diagnosis of Fabry disease is becoming important because of the prospect of recombinant alpha-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.
Asahi
Koichi
K
Department of Internal Medicine III, Fukushima Medical University School of Medicine, Fukushima.
Katoh
Tetsuo
T
Watanabe
Kazuo
K
Watanabe
Tsuyoshi
T
D000328:Adult; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008297:Male