Observations of a large Dent disease cohort

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...

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Veröffentlicht in:	Kidney international 2016-08, Vol.90 (2), p.430-439
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age Factors Child Child, Preschool Chloride Channels - genetics Dent disease Genetic Association Studies Genetic Diseases, X-Linked - blood Genetic Diseases, X-Linked - complications Genetic Diseases, X-Linked - genetics Genetic Diseases, X-Linked - urine Genotype Glomerular Filtration Rate Humans Hypercalciuria - genetics Hypercalciuria - urine hypercalciuria-hypokalemia Hypophosphatemia - blood Hypophosphatemia - genetics Kidney Failure, Chronic - epidemiology Kidney Failure, Chronic - etiology Male Middle Aged Mutation Nephrolithiasis - blood Nephrolithiasis - complications Nephrolithiasis - genetics Nephrolithiasis - urine Phenotype Phosphoric Monoester Hydrolases - genetics proteinuria Proteinuria - genetics Proteinuria - urine renal failure Retrospective Studies Young Adult
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