A Kidney Transplant Recipient Treated With Migalastat for Fabry Disease for 33 Months.

IF 0.7 4区 医学 Q4 TRANSPLANTATION
Theodoros Eleftheriadis, Maria Divani, Christina Poulianiti, Maria-Anna Polyzou-Konsta, Evangelos Lykotsetas, Andriani Balatsouka, Ioannis Ioannidis, Ioannis Stefanidis
{"title":"A Kidney Transplant Recipient Treated With Migalastat for Fabry Disease for 33 Months.","authors":"Theodoros Eleftheriadis, Maria Divani, Christina Poulianiti, Maria-Anna Polyzou-Konsta, Evangelos Lykotsetas, Andriani Balatsouka, Ioannis Ioannidis, Ioannis Stefanidis","doi":"10.6002/ect.2025.0063","DOIUrl":null,"url":null,"abstract":"<p><p>Fabry disease is an X-linked lysosomal storage disorder characterized by impaired glycosphingolipid metabolism as a result of deficient or absent α-galactosidase A activity.This enzymatic defect leads to the progressive accumulation of glycosphingolipids within various tissues, resulting in multisystem involvement, including renal dysfunction, cardiovascular pathology, cerebrovascular complications, andperipheral neuropathy.This report presents the case of a 57-year-old female who underwent kidney transplant 5 years earlier because of end-stage renal disease of unknown etiology. Genetic screening identified the GLA gene variant c.937G>T (D313Y). The patient exhibited symptoms, including vertigo,tinnitus,headaches, andupperlimbparesthesia, alongside findings of left ventricular hypertrophy and microangiopathic white matter lesions. Initiation of migalastat therapy led to symptomatic improvement without adverse effects orthe need for modifications in her immunosuppressive regimen. After 33 months of migalastat therapy, renal function remained stable, left ventricular hypertrophy resolved, and no progression of cerebral white matter lesions was observed. Thus, migalastat was shown as a well-tolerated and effective therapeutic option for Fabry disease in kidney transplant recipients with amenable GLA mutations.</p>","PeriodicalId":50467,"journal":{"name":"Experimental and Clinical Transplantation","volume":"23 5","pages":"383-387"},"PeriodicalIF":0.7000,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Experimental and Clinical Transplantation","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.6002/ect.2025.0063","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"TRANSPLANTATION","Score":null,"Total":0}
引用次数: 0

Abstract

Fabry disease is an X-linked lysosomal storage disorder characterized by impaired glycosphingolipid metabolism as a result of deficient or absent α-galactosidase A activity.This enzymatic defect leads to the progressive accumulation of glycosphingolipids within various tissues, resulting in multisystem involvement, including renal dysfunction, cardiovascular pathology, cerebrovascular complications, andperipheral neuropathy.This report presents the case of a 57-year-old female who underwent kidney transplant 5 years earlier because of end-stage renal disease of unknown etiology. Genetic screening identified the GLA gene variant c.937G>T (D313Y). The patient exhibited symptoms, including vertigo,tinnitus,headaches, andupperlimbparesthesia, alongside findings of left ventricular hypertrophy and microangiopathic white matter lesions. Initiation of migalastat therapy led to symptomatic improvement without adverse effects orthe need for modifications in her immunosuppressive regimen. After 33 months of migalastat therapy, renal function remained stable, left ventricular hypertrophy resolved, and no progression of cerebral white matter lesions was observed. Thus, migalastat was shown as a well-tolerated and effective therapeutic option for Fabry disease in kidney transplant recipients with amenable GLA mutations.

一名接受米加拉司他治疗法布里病33个月的肾移植患者
法布里病是一种x连锁溶酶体贮积性疾病,其特征是由于α-半乳糖苷酶a活性缺乏或缺失导致鞘糖脂代谢受损。这种酶缺陷导致鞘糖脂在各种组织内的进行性积累,导致多系统受累,包括肾功能障碍、心血管病理、脑血管并发症和周围神经病变。本文报告一例57岁女性,5年前因病因不明的终末期肾病接受肾脏移植手术。遗传筛选鉴定出GLA基因变异c.937G>T (D313Y)。患者的症状包括眩晕、耳鸣、头痛和上肢感觉异常,以及左心室肥厚和微血管病变性白质病变。开始咪加拉司他治疗导致症状改善,无不良反应或需要修改免疫抑制方案。米加拉司他治疗33个月后,肾功能保持稳定,左心室肥厚消退,脑白质病变未见进展。因此,对于GLA可调节突变的肾移植受者Fabry病,米加拉司他被证明是一种耐受性良好且有效的治疗选择。
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
1.40
自引率
11.10%
发文量
258
审稿时长
6-12 weeks
期刊介绍: The scope of the journal includes the following: Surgical techniques, innovations, and novelties; Immunobiology and immunosuppression; Clinical results; Complications; Infection; Malignancies; Organ donation; Organ and tissue procurement and preservation; Sociological and ethical issues; Xenotransplantation.
×
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:604180095
Book学术官方微信