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Learning Physiology From Inherited Kidney Disorders

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van der Wijst, Jenny Belge, Hendrica Bindels, René J. M. Devuyst, Olivier [UCL]

(eng) The identification of genes causing inherited kidney diseases yielded crucial insights in the molecular basis of disease and improved our understanding of physiological processes that operate in the kidney. Monogenic kidney disorders are caused by mutations in genes coding for a large variety of proteins including receptors, channels and transporters, enzymes, transcription factors, and structural components, operating in specialized cell types that perform highly regulated homeostatic functions. Common variants in some of these genes are also associated with complex traits, as evidenced by genome-wide association studies in the general population. In this review, we discuss how the molecular genetics of inherited disorders affecting different tubular segments of the nephron improved our understanding of various transport processes and of their involvement in homeostasis, while providing novel therapeutic targets. These include inherited disorders causing a dysfunction of the proximal tubule (renal Fanconi syndrome), with emphasis on epithelial differentiation and receptor-mediated endocytosis, or affecting the reabsorption of glucose, the handling of uric acid, and the reabsorption of sodium, calcium, and magnesium along the kidney tubule.

Document type Article de périodique (Journal article) – Synthèse de littérature
Access type Accès libre
Publication date 2019
Language Anglais
Journal information "Physiological Reviews" - Vol. 99, no. 3, p. 1575-1653 (2019)
Peer reviewed yes
Publisher American Physiological Society ((United States) Bethesda, MD)
issn 0031-9333
e-issn 1522-1210
Publication status Publié
Affiliations UCL - SSS/IREC/NEFR - Pôle de Néphrologie
UCL - (SLuc) Service de néphrologie
Keywords Physiology (medical) ; Physiology ; Molecular Biology ; General Medicine
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Bibliographic reference van der Wijst, Jenny ; Belge, Hendrica ; Bindels, René J. M. ; Devuyst, Olivier. Learning Physiology From Inherited Kidney Disorders. In: Physiological Reviews, Vol. 99, no. 3, p. 1575-1653 (2019)
Permanent URL http://hdl.handle.net/2078.1/218450