Podocyturia : why it may have added value in rare diseases
Sanchez-Niño, Maria Dolores (Universidad Autónoma de Madrid)
Pérez-Gómez, Maria Vanessa (Universidad Autónoma de Madrid)
Valiño-Rivas, Lara (Universidad Autónoma de Madrid)
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau)
Ortiz, Alberto (Universidad Autónoma de Madrid)
Universitat Autònoma de Barcelona

Fecha:	2018
Resumen:	Fabry disease is an inherited lysosomal disease in which defects in the GLA gene lead to α-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.
Ayudas:	Instituto de Salud Carlos III PI16-02057 Instituto de Salud Carlos III PI18-01366 Instituto de Salud Carlos III RD016-009
Nota:	Altres ajuts: The work was supported by Comunidad de Madrid CIFRA2 B2017/BMD-3686.
Derechos:	Tots els drets reservats.
Lengua:	Anglès
Documento:	Article ; altres ; Versió publicada
Materia:	Fabry ; Podocalyxin ; Podocyte ; Podocyturia ; Synaptopodin
Publicado en:	Clinical Kidney Journal, Vol. 12 (october 2018) , p. 49-52, ISSN 2048-8513

DOI: 10.1093/ckj/sfy081
PMID: 30863545

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