Boyer Olivia, Mollet Géraldine, Dorval Guillaume
Service 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.
Université Paris Cité, institut Imagine, laboratoire des maladies rénales héréditaires, Inserm UMR1163, Paris, France.
Med Sci (Paris). 2023 Mar;39(3):246-252. doi: 10.1051/medsci/2023029. Epub 2023 Mar 21.
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.
遗传性类固醇抵抗性肾病综合征（SRNS）的遗传学研究已经确定了60多个与单基因、孤立性或综合征性遗传性足细胞病发病相关的基因。有时，综合征性SRNS与神经系统疾病有关。在过去几十年中，各种研究已经在足细胞（一种参与肾滤过屏障的肾小球上皮细胞）和神经元细胞之间建立了形态学（裂孔隔膜和突触）和功能（信号平台）方面的联系。在足细胞和神经元不同区室中表达的蛋白质编码基因的变异，是导致肾损伤合并蛋白尿与中枢和/或外周神经系统疾病相关表型的原因。在本综述中，我们旨在聚焦于合并蛋白尿和神经系统疾病的遗传综合征，并介绍这些神经-肾疾病描述方面的最新进展。
