Novel thiazide-sensitive Na-Cl cotransporter mutation in a Chinese patient with Gitelman's syndrome presenting as hypokalaemic paralysis

Nephrol Dial Transplant. 2003 May;18(5):1005-8. doi: 10.1093/ndt/gfg073.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Carrier Proteins / genetics*
  • China
  • Female
  • Heterozygote
  • Humans
  • Hypokalemia / diagnosis
  • Hypokalemia / genetics*
  • Male
  • Mutation, Missense*
  • Paralysis / diagnosis
  • Paralysis / genetics*
  • Pedigree
  • Receptors, Drug*
  • Renal Tubular Transport, Inborn Errors / diagnosis
  • Renal Tubular Transport, Inborn Errors / genetics*
  • Sodium Chloride Symporters
  • Solute Carrier Family 12, Member 3
  • Symporters*
  • Syndrome

Substances

  • Carrier Proteins
  • Receptors, Drug
  • SLC12A3 protein, human
  • Sodium Chloride Symporters
  • Solute Carrier Family 12, Member 3
  • Symporters
  • thiazide receptor