Division of Nephrology and Hypertension, Department of Internal Medicine, The Jikei University School of Medicine, Japan.
Intern Med. 2021 May 15;60(10):1567-1572. doi: 10.2169/internalmedicine.5977-20. Epub 2020 Dec 15.
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.
吉特曼综合征(GS)患者的肾脏捐赠资格和长期捐赠后肾功能预后尚不清楚。本文报告了一例 44 岁的 GS 女性患者进行了肾脏捐赠。基因序列分析显示 SLC12A3 基因存在 T180K 和 L858H 复合杂合突变。自移植以来,在仔细监测和补充的情况下,供者和受者的肾功能以及血清钾和镁水平在七年中一直保持稳定。对于无症状 GS 患者,在没有并发症的情况下,可以考虑在适当的移植后监测下有资格进行肾脏捐赠。