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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.

DOI:10.2169/internalmedicine.5977-20
PMID:33328404
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8188029/
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/baaf0e85050c/1349-7235-60-1567-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebbe/8188029/f177fde12087/1349-7235-60-1567-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebbe/8188029/c5c9c06fac1a/1349-7235-60-1567-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebbe/8188029/baaf0e85050c/1349-7235-60-1567-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebbe/8188029/f177fde12087/1349-7235-60-1567-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebbe/8188029/c5c9c06fac1a/1349-7235-60-1567-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebbe/8188029/baaf0e85050c/1349-7235-60-1567-g003.jpg

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本文引用的文献

1
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J Endocrinol Invest. 2019 Jun;42(6):653-665. doi: 10.1007/s40618-018-0966-1. Epub 2018 Nov 10.
2
Transplantation of a Gitelman Syndrome Kidney Ameliorates Hypertension: A Case Report.Gitelman 综合征肾移植可改善高血压：病例报告。
Am J Kidney Dis. 2019 Mar;73(3):421-424. doi: 10.1053/j.ajkd.2018.06.030. Epub 2018 Sep 7.
3
Proteinuria-associated renal magnesium wasting leads to hypomagnesemia: a common electrolyte abnormality in chronic kidney disease.
蛋白尿相关的肾脏镁丢失导致低镁血症：慢性肾脏病常见的电解质异常。
Nephrol Dial Transplant. 2019 Jul 1;34(7):1154-1162. doi: 10.1093/ndt/gfy119.
4
Gitelman syndrome: an analysis of the underlying pathophysiologic mechanisms of acid-base and electrolyte abnormalities.格替曼综合征：酸碱电解质异常的潜在病理生理机制分析。
Int Urol Nephrol. 2018 Jan;50(1):91-96. doi: 10.1007/s11255-017-1653-4. Epub 2017 Jul 25.
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Gitelman's syndrome as a cause of poorly controlled hypokalemia.吉特曼综合征作为低钾血症控制不佳的一个原因。
Clin Ter. 2015;166(3):e173-6. doi: 10.7417/CT.2015.1850.
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Probable C4d-negative accelerated acute antibody-mediated rejection due to non-HLA antibodies.可能由非HLA抗体引起的C4d阴性加速性急性抗体介导排斥反应。
Nephrology (Carlton). 2015 Jul;20 Suppl 2:75-8. doi: 10.1111/nep.12467.
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Electrolyte and Acid-base disturbances induced by clacineurin inhibitors.钙调神经磷酸酶抑制剂引起的电解质和酸碱紊乱。
Electrolyte Blood Press. 2007 Dec;5(2):126-30. doi: 10.5049/EBP.2007.5.2.126. Epub 2007 Dec 31.
8
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