Approach to kidney transplant candidates with hereditary transthyretin (TTR) amyloidosis and TTR variants: case reports and mini-review.

IF 8.9 2区 医学 Q1 SURGERY
Yasar Caliskan, Deana Mikhalkova, Baris Afsar, Rengin Elsurer Afsar, Fadee Abu Al Rub, Krista L Lentine
{"title":"Approach to kidney transplant candidates with hereditary transthyretin (TTR) amyloidosis and TTR variants: case reports and mini-review.","authors":"Yasar Caliskan, Deana Mikhalkova, Baris Afsar, Rengin Elsurer Afsar, Fadee Abu Al Rub, Krista L Lentine","doi":"10.1016/j.ajt.2025.03.002","DOIUrl":null,"url":null,"abstract":"<p><p>Evaluating kidney transplant candidates with transthyretin (TTR) variants requires a multidisciplinary approach, considering clinical, genetic, and psychosocial factors. Hereditary transthyretin amyloidosis, an autosomal dominant disorder, can affect cardiovascular and renal allograft health, complicating transplant candidacy. We present 2 cases of Black women with end-stage kidney disease of unknown etiology, identified with the pathogenic Val142Ile TTR variant during transplant evaluation. Cardiac assessments, including technetium-99m pyrophosphate scintigraphy and biopsy, ruled out cardiac amyloidosis, enabling transplant eligibility. This highlights the growing role of genetic testing in kidney transplant clinics and the need for collaboration among nephrologists, cardiologists, and genetic counselors for optimal patient management.</p>","PeriodicalId":123,"journal":{"name":"American Journal of Transplantation","volume":" ","pages":""},"PeriodicalIF":8.9000,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"American Journal of Transplantation","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.ajt.2025.03.002","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"SURGERY","Score":null,"Total":0}
引用次数: 0

Abstract

Evaluating kidney transplant candidates with transthyretin (TTR) variants requires a multidisciplinary approach, considering clinical, genetic, and psychosocial factors. Hereditary transthyretin amyloidosis, an autosomal dominant disorder, can affect cardiovascular and renal allograft health, complicating transplant candidacy. We present 2 cases of Black women with end-stage kidney disease of unknown etiology, identified with the pathogenic Val142Ile TTR variant during transplant evaluation. Cardiac assessments, including technetium-99m pyrophosphate scintigraphy and biopsy, ruled out cardiac amyloidosis, enabling transplant eligibility. This highlights the growing role of genetic testing in kidney transplant clinics and the need for collaboration among nephrologists, cardiologists, and genetic counselors for optimal patient management.

遗传性转甲状腺素(TTR)淀粉样变和TTR变异体肾移植候选人的治疗方法:病例报告和小型综述。
评估肾移植候选人的转甲状腺素(TTR)变异需要多学科的方法,考虑临床,遗传和社会心理因素。遗传性甲状腺转蛋白淀粉样变性(ATTR)是一种常染色体显性遗传病,可影响心血管和肾脏移植的健康,使移植的候选性复杂化。我们报告了两例黑人女性终末期肾病(ESKD)病因不明,在移植评估中被鉴定为致病性Val142Ile TTR变异。心脏评估,包括锝-99m焦磷酸盐显像和活检,排除了心脏淀粉样变性,使移植合格。这凸显了基因检测在肾移植诊所中日益重要的作用,以及肾病学家、心脏病学家和遗传咨询师之间合作的必要性,以实现最佳的患者管理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
CiteScore
18.70
自引率
4.50%
发文量
346
审稿时长
26 days
期刊介绍: The American Journal of Transplantation is a leading journal in the field of transplantation. It serves as a forum for debate and reassessment, an agent of change, and a major platform for promoting understanding, improving results, and advancing science. Published monthly, it provides an essential resource for researchers and clinicians worldwide. The journal publishes original articles, case reports, invited reviews, letters to the editor, critical reviews, news features, consensus documents, and guidelines over 12 issues a year. It covers all major subject areas in transplantation, including thoracic (heart, lung), abdominal (kidney, liver, pancreas, islets), tissue and stem cell transplantation, organ and tissue donation and preservation, tissue injury, repair, inflammation, and aging, histocompatibility, drugs and pharmacology, graft survival, and prevention of graft dysfunction and failure. It also explores ethical and social issues in the field.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信