Fabry disease is an inherited lysosomal disease in which defects in the GLA gene lead to a-galactosidase-A deficiency, and accumulation of glycosphingolipids, including lyso-Gb3, a podocyte stressor. Therapy is available as enzyme replacement therapy and, for some patients, the chaperone migalastat. A key decision is when to start therapy, given its costs and potential impact on some aspects of quality of life. The decision is especially difficult in otherwise asymptomatic patients. A delayed start of therapy may allow kidney injury to progress subclinically up to the development of irreversible lesions. Non-invasive tools to monitor subclinical kidney injury are needed. One such tool may be assessment of podocyturia. In this issue of CKJ, [Trimarchi H, Canzonieri R, Costales-Collaguazo C et al. Early decrease in the podocalyxin to synaptopodin ratio in urinary Fabry podocytes. Clin Kidney J 2019; doi.org/10.1093/ckj/ sfy053] report on podocyturia assessment in Fabry nephropathy. Specifically, they report that podocalyxin may be lost from detached urinary podocytes.
CITATION STYLE
Sanchez-Niño, M. D., Perez-Gomez, M. V., Valiño-Rivas, L., Torra, R., & Ortiz, A. (2019). Podocyturia: Why it may have added value in rare diseases. Clinical Kidney Journal, 12(1), 49–52. https://doi.org/10.1093/ckj/sfy081
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