Atypical Gitelman syndrome with L623P mutation of the thiazide-sensitive Na-Cl cotransporter gene exhibiting lack of hypocalciuria and increased proximal tubule salt reabsorption

Nephrol Dial Transplant. 2006 Nov;21(11):3340-1. doi: 10.1093/ndt/gfl361. Epub 2006 Jul 19.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Amino Acid Substitution / genetics*
  • Calcium / urine*
  • Female
  • Gitelman Syndrome / genetics*
  • Gitelman Syndrome / metabolism
  • Humans
  • Kidney Tubules, Proximal / metabolism*
  • Middle Aged
  • Receptors, Drug / genetics*
  • Sodium Chloride / metabolism*
  • Sodium Chloride Symporters / genetics*

Substances

  • Receptors, Drug
  • Sodium Chloride Symporters
  • thiazide receptor
  • Sodium Chloride
  • Calcium