Long-term Clinical Course after Living Kidney Donation by a Patient with Gitelman Syndrome Harboring a Compound Heterozygous Mutation of the SLC12A3 Gene

Intern Med. 2021 May 15;60(10):1567-1572. doi: 10.2169/internalmedicine.5977-20. Epub 2020 Dec 15.

Abstract

The eligibility for kidney donation and long-term post-donation renal prognosis of patients with Gitelman syndrome (GS) are unknown. We herein report a 44-year-old woman with GS who donated her kidney for transplant. A gene sequence analysis revealed compound heterozygous mutations of T180K and L858H in the SLC12A3 gene. Since transplantation, the renal function and serum potassium and magnesium levels of the donor and recipient have remained stable for seven years with careful monitoring and supplementation. Patients with asymptomatic GS who have no complications can be considered eligible to donate their kidney for transplant with proper monitoring after transplantation.

Keywords: Gitelman syndrome; hypokalemia; kidney transplantation; the SLC12A3 gene.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Gitelman Syndrome* / genetics
  • Humans
  • Kidney
  • Mutation
  • Solute Carrier Family 12, Member 3 / genetics
  • Tissue and Organ Harvesting

Substances

  • SLC12A3 protein, human
  • Solute Carrier Family 12, Member 3