title: Foot process effacement with normal urinalysis in classic fabry disease.
abstract: Fabry disease is an X-linked glycosphingolipidosis caused by deficient synthesis of the enzyme α-galactosidase A, which results in glycosphingolipidosis, predominantly globotriaosylceramide, progressively accumulating in systemic tissue. A dominant complication of Fabry disease is nephropathy. The average age for the development of clinical nephropathy is 27 years in male patients, with up to half of all patients developing end-stage renal failure by their 50s. A recent study revealed podocytes play important roles in antiproteinuria. Podocyte injury leads to foot process effacement and proteinuria. The foot process effacement induces podocyte depletion from the glomerular wall, glomerulosclerosis, and results in end-stage renal failure. We report on a 13-year-old boy with classic Fabry disease, who developed foot process effacement and podocyte depletion even before proteinuria appeared. At the time, his only symptom of Fabry disease was acroparesthesia. He was administered Agalsidase β (1 mg/kg/dose div) every other week and 14 months               after treatment, his renal function remained normal. This is the first report of a patient with classic Fabry disease, with only acroparesthesia, who had normal urinalysis but manifested foot process effacement and podocyte depletion. Podocytes are highly differentiated cells with a limited capacity for cell division and replacement. The large individual variation and often progressive nature of this disease raises concerns about the appropriate timing for initiating enzyme replacement therapy (ERT). Recent data have shown a limited effect of ERT on progressive organ damage. In our case, ERT was initiated before proteinuria appeared, with good outcome.
authors: Department of Pediatrics, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke-shi, Tochigi, 329-0498, Japan, tkanai@jichi.ac.jp.
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