{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T13:54:54Z","timestamp":1781877294178,"version":"3.54.5"},"reference-count":37,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T00:00:00Z","timestamp":1781654400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by pathogenic\n                      <jats:italic>GLA<\/jats:italic>\n                      gene mutations, leading to deficient\n                      <jats:italic>\u03b1<\/jats:italic>\n                      -galactosidase A (\n                      <jats:italic>\u03b1<\/jats:italic>\n                      -GalA) activity and systemic accumulation of globotriaosylceramide (Gb3) and its derivatives. It is characterized by progressive multi-organ damage, especially nephropathy and cardiomyopathy. Agalsidase beta (Fabrazyme; Sanofi, Paris) for enzyme replacement therapy (ERT) has been approved in China. We report the clinical outcomes of two Chinese adult male FD patients with proteinuria treated with agalsidase beta.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Cases presentation<\/jats:title>\n                    <jats:p>\n                      Two Chinese male patients with classic FD phenotypes and proteinuria were treated with agalsidase beta (1\u2005mg\/kg every two weeks). Case 1 (last followed up at age 34,\n                      <jats:italic>GLA<\/jats:italic>\n                      c.493G\u2009&amp;gt;\u2009T mutation) developed proteinuria at age 23, presented with severe renal impairment, and underwent kidney transplantation at approximately age 32 after receiving ERT for 21 months prior to transplantation. Post-transplant, his renal function stabilized (creatinine &amp;lt;115 \u03bcmol\/L) with resolved proteinuria.Renal recovery was primarily attributed to transplantation, while ERT contributed to systemic control. His plasma Lyso-Gb3 decreased by 70.6% (93.33 to 27.38\u2005ng\/mL). Case 2 (last followed up at age 40, GLA c.1201T\u2009&amp;gt;\u2009C mutation) developed proteinuria at age 30, had stage 2 chronic kidney disease and left ventricular hypertrophy. Following genetic confirmation at age 36, he initiated ERT at age 37, with initial irregular dosing due to social factors and economic pressure, then transitioned to standardized biweekly dosing at age 38. After approximately 4 years of ERT, his Lyso-Gb3 decreased by 68.5% (79.17 to 24.93\u2005ng\/mL). His proteinuria improved (2195.52 to 1834.34\u2005mg\/24\u2005h) with unchanged RAAS blocker doses. Both patients also experienced regression of some symptoms, including neuropathic pain and gastrointestinal discomfort, and tolerated the therapy well with no infusion-related adverse events.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>In these two cases, agalsidase beta was well-tolerated and associated with stabilization of renal and cardiac function. The management of proteinuria required concomitant RAAS inhibition. Family cascade screening remains critical for early diagnosis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fped.2026.1839303","type":"journal-article","created":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T05:56:13Z","timestamp":1781675773000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical outcomes of agalsidase Beta (fabrazyme) in Chinese fabry disease patients with proteinuria: a case series"],"prefix":"10.3389","volume":"14","author":[{"given":"Zelei","family":"He","sequence":"first","affiliation":[{"name":"Department of Pediatrics, The First Affiliated Hospital of Sun Yat-Sen University","place":["Guangzhou, Guangdong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanyuan","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The First Affiliated Hospital of Sun Yat-Sen University","place":["Guangzhou, Guangdong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongmei","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The First Affiliated Hospital of Sun Yat-Sen University","place":["Guangzhou, Guangdong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yijuan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The First Affiliated Hospital of Sun Yat-Sen University","place":["Guangzhou, Guangdong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingling","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The First Affiliated Hospital of Sun Yat-Sen University","place":["Guangzhou, Guangdong, 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