From bench to bedside: diagnosis of Gitelman's syndrome -- defect of sodium-chloride cotransporter in renal tissue

Kidney Int. 2006 Aug;70(4):813-7. doi: 10.1038/sj.ki.5001694. Epub 2006 Jul 12.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alkalosis / blood
  • Alkalosis / complications
  • Alkalosis / diagnosis*
  • Alkalosis / genetics
  • Alkalosis / urine
  • Calcium / urine*
  • Female
  • Gene Expression Regulation
  • Humans
  • Hypertrophy / pathology
  • Hypokalemia / blood
  • Hypokalemia / complications
  • Hypokalemia / diagnosis*
  • Hypokalemia / genetics
  • Hypokalemia / urine
  • Kidney Tubules, Distal / pathology
  • Magnesium / blood*
  • Mutation / genetics
  • Paralysis / etiology
  • Paresthesia / etiology
  • Receptors, Drug / genetics
  • Sodium Chloride Symporters / genetics*
  • Sodium Chloride Symporters / metabolism
  • Solute Carrier Family 12, Member 3
  • Symporters / genetics
  • Syndrome

Substances

  • Receptors, Drug
  • SLC12A3 protein, human
  • Sodium Chloride Symporters
  • Solute Carrier Family 12, Member 3
  • Symporters
  • Magnesium
  • Calcium