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Inherited Renal Tubulopathies—Challenges and Controversies
Review

Claudins in Renal Physiology and Pathology

by 1,2,3,4,5 and 1,2,3,4,5,*
1
Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, F-75006 Paris, France
2
Service de Physiologie, Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris, F-75015 Paris, France
3
Centre de Référence des Maladies Rénales Héréditaires de l’Enfant et de l’Adulte (MARHEA), F-75015 Paris, France
4
Centre de Référence des Maladies Rares du Calcium et du Phosphate, F-75015 Paris, France
5
CNRS, ERL8228, F-75006 Paris, France
*
Author to whom correspondence should be addressed.
Received: 15 January 2020 / Revised: 24 February 2020 / Accepted: 24 February 2020 / Published: 10 March 2020
(This article belongs to the Special Issue Genetics of Tubulopathies)
Claudins are integral proteins expressed at the tight junctions of epithelial and endothelial cells. In the mammalian kidney, every tubular segment express a specific set of claudins that give to that segment unique properties regarding permeability and selectivity of the paracellular pathway. So far, 3 claudins (10b, 16 and 19) have been causally traced to rare human syndromes: variants of CLDN10b cause HELIX syndrome and variants of CLDN16 or CLDN19 cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis. The review summarizes our current knowledge on the physiology of mammalian tight junctions and paracellular ion transport, as well as on the role of the 3 above-mentioned claudins in health and disease. Claudin 14, although not having been causally linked to any rare renal disease, is also considered, because available evidence suggests that it may interact with claudin 16. Some single-nucleotide polymorphisms of CLDN14 are associated with urinary calcium excretion and/or kidney stones. For each claudin considered, the pattern of expression, the function and the human syndrome caused by pathogenic variants are described. View Full-Text
Keywords: claudin 10b; claudin 16; claudin 19; claudin 14; kidney; tight junction; HELIX syndrome; familial hypomagnesemia with hypercalciuria and nephrocalcinosis; sodium; divalent cations claudin 10b; claudin 16; claudin 19; claudin 14; kidney; tight junction; HELIX syndrome; familial hypomagnesemia with hypercalciuria and nephrocalcinosis; sodium; divalent cations
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MDPI and ACS Style

Prot-Bertoye, C.; Houillier, P. Claudins in Renal Physiology and Pathology. Genes 2020, 11, 290. https://0-doi-org.brum.beds.ac.uk/10.3390/genes11030290

AMA Style

Prot-Bertoye C, Houillier P. Claudins in Renal Physiology and Pathology. Genes. 2020; 11(3):290. https://0-doi-org.brum.beds.ac.uk/10.3390/genes11030290

Chicago/Turabian Style

Prot-Bertoye, Caroline, and Pascal Houillier. 2020. "Claudins in Renal Physiology and Pathology" Genes 11, no. 3: 290. https://0-doi-org.brum.beds.ac.uk/10.3390/genes11030290

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