Homepage  
SymptomsDiseasesGenetestsShipmentSampleContactQuality
   
 


Dent disease
300009


Pedigree


Diagnostic
strategy


Forms


Print page


Sprache
wechseln

Dent disease

Clinical feature: 

Definition: Dent disease is an X-linked recessive disorder of proximal tubule function, which results low molecular weight proteinuria, nephrocalcinosis/nephrolithiasis, hypercalciuria, and progressive renal failure.

Systematic link table: 

Disorders of tubular solute transport
Aminoaciduria
Dent disease
CLCN5
OCRL1
Hereditary Salt-wasting tubulopathies
Hyperphosphaturia
Liddle syndrome
NEDD4
NEDD4L
NR3C2
SCNN1B
SCNN1G
Lowe disease
OCRL1
Monosacchariduria
Nephrogenic diabetes insipidus
AQP2
AVPR2
Pseudohypoaldosteronism
Renal Hypouricemia
SLC22A12
Renal tubular acidosis
ATP6V0A4
ATP6V1B1
CA2
SLC4A1
SLC4A4

Literature: 

Igarashi T et al. (2006) [Dent disease (idiopathic tubular proteinuria): Pathogenesis, pathophysiology, and therapy]
Cobeñas CJ et al. (2004) A 3-year-old child with proteinuria and nephrocalcinosis. Suspicion of Dent disease.
Watanabe T et al. (2004) Megalin and proximal renal tubular dysfunction in Dent disease.
Ludwig M et al. (2004) Dent disease-like phenotype and the chloride channel ClC-4 (CLCN4) gene.
Santo Y et al. (2004) Examination of megalin in renal tubular epithelium from patients with Dent disease.
Ludwig M et al. (2006) Hypercalciuria in patients with CLCN5 mutations.
Hoopes RR et al. (2005) Dent Disease with mutations in OCRL1.