Family history may be misleading in the diagnosis of Dent's disease

Urol Res. 2006 Feb;34(1):61-3. doi: 10.1007/s00240-005-0005-5. Epub 2006 Jan 14.

Abstract

The rare Dent's disease manifests with medullary nephrocalcinosis, nephrolithiasis, hypercalciuria, low molecular weight proteinuria and other tubular dysfunctions, rickets or osteomalacia, and renal failure, in various combinations. It is a recessive X-linked condition. Clinicians consider family history a fundamental pointer to its diagnosis, but this is not invariably the case as clearly pointed out by the two reported cases.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Chloride Channels / genetics
  • Diagnostic Errors
  • Family Health*
  • Humans
  • Hypercalciuria / diagnosis*
  • Hypercalciuria / genetics*
  • Kidney Calculi / diagnosis*
  • Kidney Calculi / genetics*
  • Kidney Failure, Chronic / genetics
  • Male
  • Pedigree
  • Receptors, Calcitriol / genetics

Substances

  • CLC-5 chloride channel
  • Chloride Channels
  • Receptors, Calcitriol