GTR Home > Conditions/Phenotypes > Dent disease 1

Disease characteristics

Excerpted from the GeneReview: Dent Disease
Dent disease, an X-linked disorder of proximal renal tubular dysfunction, is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and chronic kidney disease (CKD). Males younger than age ten years may manifest only low molecular weight (LMW) proteinuria and/or hypercalciuria, which are usually asymptomatic. Thirty to 80% of affected males develop end-stage renal disease (ESRD) between ages 30 and 50 years; in some instances ESRD does not develop until the sixth decade of life or later. Rickets or osteomalacia are occasionally observed, and mild short stature, although underappreciated, may be a common occurrence. Disease severity can vary within the same family. Males with Dent disease 2 (caused by mutations in OCRL) are at increased risk for intellectual disability. Due to random X-chromosome inactivation, some female carriers may manifest hypercalciuria and, rarely, renal calculi and moderate LMW proteinuria. Females rarely if ever develop CKD.

Available tests

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Check Associated genes and Related conditions for additional relevant tests.

Associated genes

  • Also known as: CLC5, CLCK2, ClC-5, DENTS, NPHL1, NPHL2, XLRH, XRN, hCIC-K2, CLCN5
    Summary: chloride channel, voltage-sensitive 5

Clinical features

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  • Glycosuria
  • Short stature
  • Sparse bone trabeculae
  • Thin bony cortex
  • Bulging epiphyses
  • Increased serum 1,25-dihydroxyvitamin D3
  • Femoral bowing
  • Tibial bowing
  • Enlargement of the wrists
  • Enlargement of the ankles
  • Low-molecular-weight proteinuria
  • Renal phosphate wasting
  • Proximal tubulopathy
  • Metaphyseal irregularity
  • Delayed epiphyseal ossification
  • Bone pain
  • Nephrocalcinosis
  • Nephrolithiasis
  • Hypophosphatemia
  • Hypercalciuria
  • Rickets
  • Osteomalacia
  • Recurrent fractures
  • Microscopic hematuria
  • Bowing of the legs
  • Hyperphosphaturia
  • Aminoaciduria
  • Fibular bowing
  • Chronic kidney disease
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