Gitelman syndrome: report of three cases and literature review

Kaohsiung J Med Sci. 2006 Jul;22(7):357-62. doi: 10.1016/S1607-551X(09)70323-7.

Abstract

Gitelman syndrome (GS) is a rare autosomal recessive, inherited renal tubular disorder. Herein, we report three cases of GS, one sporadic case and two siblings. They have typical laboratory findings, including hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. All of them were treated with oral potassium and magnesium supplements. They received regular pediatric clinic follow-up to check electrolytes and monitor development. These three cases reminded us that doctors should be alert to unexplained hypokalemia, which is usually the initial presentation of GS.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Alkalosis / therapy*
  • Calcium / urine*
  • Female
  • Humans
  • Hypokalemia / therapy*
  • Magnesium / therapeutic use
  • Magnesium Deficiency / therapy*
  • Male
  • Potassium Chloride / therapeutic use
  • Renal Tubular Transport, Inborn Errors / therapy*
  • Sodium Chloride Symporters / genetics
  • Syndrome

Substances

  • Sodium Chloride Symporters
  • Potassium Chloride
  • Magnesium
  • Calcium