학술논문
Podocyturia: why it may have added value in rare diseases
EDITORIAL COMMENT
EDITORIAL COMMENT
Document Type
Editorial
Author
Source
Clinical Kidney Journal. February 2019, Vol. 12 Issue 1, p49, 4 p.
Subject
Language
English
ISSN
2048-8505
Abstract
Fabry disease is a hereditary metabolic disorder characterized by accumulation of glycosphingolipids that leads to chronic kidney disease (CKD), heart disease and stroke, among others [1]. Fabry nephropathy is one [...]
Fabry disease is an inherited lysosomal disease in which defects in the GLA gene lead to [alpha]-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. Keywords: Fabry, podocalyxin, podocyte, podocyturia, synaptopodin
Fabry disease is an inherited lysosomal disease in which defects in the GLA gene lead to [alpha]-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. Keywords: Fabry, podocalyxin, podocyte, podocyturia, synaptopodin