[Neurological disorders and hereditary podocytopathies: Some fascinating pathophysiological overlaps]
Olivia Boyer1, Géraldine Mollet2, Guillaume Dorval3
1Service de néphrologie pédiatrique, AP-HP, Centre de référence de maladies rénales rares de l'enfant et de l'adulte (MARHEA), hôpital Necker - Enfants Malades, Paris, France - Université Paris Cité, institut Imagine, laboratoire des maladies rénales héréditaires, Inserm UMR1163, Paris, France.
Abstract:
Genetic studies of hereditary steroid resistant nephrotic syndrome (SRNS) have identified more than 60 genes involved in the development of single-gene, isolated or syndromic forms of hereditary podocytoapthies. Sometimes, syndromic SRNS is associated with neurological disorders. Over the past decades, various studies have established links between the podocyte, an epithelial glomerular cell involved in the renal filtration barrier, and neuronal cells, both morphologically (slit diaphragm and synapse) and functionally (signaling platforms). Variants of genes encoding proteins expressed in different compartments of the podocyte and neurons are responsible for phenotypes associating renal lesions with proteinuria to central and/or peripheral neurological disorders. In this review, we aim to focus on genetic syndromes associating proteinuria and neurological disease and to present the latest advances in the description of these neuro-renal disorders.
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