Suppr超能文献

Gitelman 综合征患者携带 SLC12A3 基因复合杂合突变行活体肾捐赠后的长期临床病程。

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

机构信息

Division of Nephrology and Hypertension, Department of Internal Medicine, The Jikei University School of Medicine, Japan.

出版信息

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebbe/8188029/f177fde12087/1349-7235-60-1567-g001.jpg

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验