" /> Dent Disease - CISMeF





Preferred Label : Dent Disease;

NCIt synonyms : X-Linked Recessive Hypophosphatemic Rickets;

NCIt definition : An X-linked, recessive disorder of the proximal renal tubules that presents during childhood, and is characterized by low-molecular weight proteinuria, hypercalciuria, hypophosphatemia rickets, nephrocalcinosis, nephrolithiasis, and progressive kidney failure.;

Alternative definition : NICHD: Hypophosphatemic rickets due to mutation(s) in the X-chromosomal CLCN5 gene, encoding H( )/Cl(-) exchange transporter 5. This condition is expressed in male individuals hemizygous for the mutation(s), and in female individuals homozygous for the mutation(s). The disorder of the proximal renal tubules is characterized by low-molecular weight proteinuria, hypercalciuria, renal phosphate wasting, nephrocalcinosis, nephrolithiasis, progressive kidney failure, and elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations.;

Détails


Vous pouvez consulter :


Nous contacter.
31/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.