Dent Disease

Dent disease is characterized by renal Fanconi syndrome with low molecular weight proteinuria, hypercalciuria, nephrolithiasis (kidney stones), nephrocalcinosis (calcification of renal tissue) and progressive renal failure. Hypophosphatemic rickets in the first years of life can be a presenting feature. Renal tubular dysfunction may be evident even in the neonatal period. Mutations in the CLCN5 gene have been observed in patients with Dent disease but not in patients with isolated nephrolithiasis. Genetic heterogeneity in Dent Disease exists as mutations in the OCRL1 gene, encoding a phosphatidylinositol 4,5-bisphosphate (PIP2) 5-phosphatase, have been found in approximately 40% of families with the isolated renal phenotype of Dent disease who did not have mutations in CLCN5. These patients also lacked the classic findings of cataract, renal tubular acidosis and neurological abnormalities characteristic of Lowe syndrome.

Tests Available

Forms and Documents

Test Details

  • Confirmation of the clinical diagnosis
  • Differentiation between Dent disease and other causes of Fanconi syndrome
  • Determination of appropriate therapeutic approach
  • Identification of carriers
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing


3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs


  • 592 Calculus of kidney and ureter Excludes: nephrocalcinosis (275.49)
  • 270 Disorders of amino-acid transport and metabolism Excludes: abnormal findings without manifest disease (790.0-796.9) disorders of purine and pyrimidine metabolism (277.1-277.2) gout (274.00-274.9)
  • 275.4 Disorders of calcium metabolism
  • 639.3 Kidney failure Oliguria
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  1. Rebelo et al., (2005) An Acad Bras Cienc 77(1):95-101
  2. Hoopes et al., (2005) Am J Hum Genet 76:260- 267
  3. Ludwig et al., (2005) Hum Genet 117:228-237
  4. Tosetto et al., (2006) Nephrol Dial Transplant 21:2452-2463