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

患有 Gitelman 综合征且携带 SLC12A3 基因复合杂合突变的患者活体肾捐赠后的长期临床病程

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作者:Sahoko Kamejima, Izumi Yamamoto, Akiko Tajiri, Yudo Tanno, Ichiro Ohkido, Takashi Yokoo

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.

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