Dent disease 300009
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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.
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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.