Theodoros Eleftheriadis, Maria Divani, Christina Poulianiti, Maria-Anna Polyzou-Konsta, Evangelos Lykotsetas, Andriani Balatsouka, Ioannis Ioannidis, Ioannis Stefanidis
{"title":"一名接受米加拉司他治疗法布里病33个月的肾移植患者","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":"{\"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}","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}
A Kidney Transplant Recipient Treated With Migalastat for Fabry Disease for 33 Months.
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.
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.