{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,2]],"date-time":"2024-07-02T13:58:51Z","timestamp":1719928731943},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T00:00:00Z","timestamp":1708473600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T00:00:00Z","timestamp":1708473600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Nephrol"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fabry disease (FD) is an uncommon, X-linked, lysosomal storage disease that causes defects in the glycosphingolipid metabolic pathway due to deficient or absent lysosomal \u03b1-galactosidase (\u03b1-Gal A) activity. This leads to the accumulation of globotriaosylceramide (GL-3) within lysosomes in a wide range of cells, including endothelial, cardiac, renal, and corneal cells, and consequently, the progressive appearance of clinical symptoms in target organs. Enzyme replacement therapy (ERT), which involves the exogenous supplementation of \u03b1-Gal A enzyme and has been successfully administered for treating FD.<\/jats:p><jats:p>Here, we report a case of a 37-year-old male with complaints of recurrent proteinuria and ventricular septal thickening. A renal biopsy revealed vacuolization and foamy changes in podocytes, and the presence of myelin-like bodies and zebra bodies. The white blood cell \u03b1-Gal A activity was very low, while the Lyso-GL-3 level was high. Additionally, genetic analysis revealed a gene variant c.902G\u2009&gt;\u2009A p. Arg301Gln. The patient was diagnosed with FD, and subsequently received intravenous ERT with a dose of Agalsidase \u03b1 (0.2\u00a0mg\/kg, 17.5\u00a0mg every 2\u00a0weeks). Currently, the values of proteinuria and ventricular septum thickness remain stable during the 6-month follow-up. Initiating ERT at an early age can effectively decrease the deposition of GL-3, attenuate the progressive clinical manifestations of FD, and provide greater long-term benefits.<\/jats:p>","DOI":"10.1186\/s12882-024-03499-w","type":"journal-article","created":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T17:02:30Z","timestamp":1708534950000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Case report: enzyme replacement therapy for Fabry disease presenting with proteinuria and ventricular septal thickening"],"prefix":"10.1186","volume":"25","author":[{"given":"Zewei","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Yin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan","family":"Jiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tianyang","family":"Ye","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,2,21]]},"reference":[{"key":"3499_CR1","doi-asserted-by":"publisher","first-page":"1025740","DOI":"10.3389\/fphar.2022.1025740","volume":"13","author":"X Li","year":"2022","unstructured":"Li X, Ren X, Zhang Y, Ding L, Huo M, Li Q. Fabry disease: Mechanism and therapeutics strategies. Front Pharmacol. 2022;13:1025740.","journal-title":"Front Pharmacol"},{"issue":"6","key":"3499_CR2","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1038\/nrneph.2009.71","volume":"5","author":"C Abaterusso","year":"2009","unstructured":"Abaterusso C, De Biase V, Salviati A, Fabris A, Millardi D, Tomei P, Bernich P, Lupo A, Gambaro G. Unusual renal presentation of Fabry disease in a female patient. Nat Rev Nephrol. 2009;5(6):349\u201354.","journal-title":"Nat Rev Nephrol"},{"issue":"2","key":"3499_CR3","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1016\/j.revmed.2020.08.019","volume":"42","author":"M Michaud","year":"2021","unstructured":"Michaud M, Mauhin W, Belmatoug N, Bedreddine N, Garnotel R, Catros F, Lidove O, Gaches F. Fabry disease: a review. 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We confirm that we have read the Journal\u2019s position on issues involved in ethical publication and affirm that this work is consistent with those guidelines.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the the patient for publication of this case report and any accompanying images.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"61"}}