Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance

QJM. 1994 Aug;87(8):473-93.


We describe a familial form of renal Fanconi syndrome characterized by hypercalciuria, low-molecular-weight proteinuria, nephrocalcinosis and slowly progressive renal failure. Males are much more severely affected than females. The patients studied included 15 males and 10 females, and five families with up to three generations involved. Studies of the two largest families described here have already shown that their disease is inherited on the X-chromosome. The series contains the two unrelated patients originally described by Dent and Friedman in 1964 as 'hypercalcuric rickets'.

MeSH terms

  • Adolescent
  • Adult
  • Calcium / urine*
  • Fanconi Syndrome / genetics*
  • Female
  • Humans
  • Kidney Calculi / genetics
  • Kidney Failure, Chronic / genetics*
  • Kidney Tubules, Proximal / physiopathology
  • Male
  • Middle Aged
  • Nephrocalcinosis / genetics*
  • Pedigree
  • Phosphates / blood
  • Phosphates / urine
  • Proteinuria / genetics*
  • Rickets / genetics*
  • Sex Factors


  • Phosphates
  • Calcium