title: Fabry disease with few clinical signs and symptoms.
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. 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.
authors.affiliation: Department of Internal Medicine III, Fukushima Medical University School of Medicine, Fukushima.
authors.forename: Koichi
authors.initials: K
authors.lastname: Asahi
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Katoh
authors.forename: Kazuo
authors.initials: K
authors.lastname: Watanabe
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Watanabe
mesh_terms: D000328:Adult; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008297:Male