Klinik: 

Definition: Morbus Dent ist eine x-chromosomal rezessive vererbte Schädigung der proximalen Tubulusfunktion, die sich in einer tubulären Proteinurie, Nephrocalcinose oder Nephrolithiasis, Hypercalciurie und einer progressiven Verlust der Nierenfunktion manifestiert.

Literatur: 

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.