Observations of a large Dent disease cohort.

doi:10.1016/j.kint.2016.04.022

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Article

Observations of a large Dent disease cohort.

Kidney international - 1 Aug 2016

Blanchard Anne, Curis Emmanuel, Guyon-Roger Tiphaine, Kahila Diana, Treard Cyrielle, Baudouin Véronique, Bérard Etienne, Champion Gérard, Cochat Pierre, Dubourg Julie, de la Faille Renaud, Devuyst Olivier, Deschenes Georges, Fischbach Michel, Harambat Jérôme, Houillier Pascal, Karras Alexandre, Knebelmann Bertrand, Lavocat Marie-Pierre, Loirat Chantal, Merieau Elodie, Niaudet Patrick, Nobili François, Novo Robert, Salomon Rémi, Ulinski Tim, Jeunemaître Xavier, Vargas-Poussou Rosa

Abstract excerpt

Dent disease classically combines low-molecular-weight proteinuria, hypercalciuria with nephrocalcinosis, and renal failure. Nephrotic range proteinuria, normal calciuria, and hypokalemia have been rarely reported. It is unknown whether the changes in phenotype observed over time are explained by a decrease in glomerular filtration rate (GFR) or whether there is any phenotype-genotype relationship. To answer this...

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PMID: 27342959
DOI: 10.1016/j.kint.2016.04.022

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CLCN5
OCRL

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