{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T21:08:57Z","timestamp":1791493737988,"version":"4.3.4"},"reference-count":37,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Fabry disease is an X-linked lysosomal storage disorder caused by \u03b1-galactosidase A deficiency leading to renal, cardiac, cerebrovascular disease and premature death. Treatment with \u03b1-galactosidase A (enzyme replacement therapy, ERT) stabilises disease in some patients, but long term effectiveness is unclear.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Renal, cardiac, and cerebral outcomes were prospectively studied in males and females with Fabry disease treated with ERT. Additionally, the occurrence of major cardiac events, stroke, end-stage renal disease and death was compared to a natural history (NH) cohort meeting treatment criteria.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Of 75 patients on ERT (median treatment duration 5.2 years, range 0.05-11.0), prospective follow-up was available for 57 adult patients (30 males) and 6 adolescents. Renal function declined in males (-3.4 ml\/min\/1.73 m\n                      <jats:sup>2<\/jats:sup>\n                      per year, SE 0.2; p\u2009&lt;\u20090.001) despite ERT, but followed the normal course in females (-0.8 ml\/min\/1.73 m\n                      <jats:sup>2<\/jats:sup>\n                      per year, SE 0.3; p\u2009=\u20090.001). Cardiac mass increased during ERT in males (+ 1.2 gram\/m\n                      <jats:sup>2.7<\/jats:sup>\n                      , SE 0.3; p\u2009&lt;\u20090.001), but remained stable in females (-0.3 gram\/m\n                      <jats:sup>2.7<\/jats:sup>\n                      per year, SE 0.4; p\u2009=\u20090.52). ERT did not prevent the occurrence of cerebral white matter lesions. Comparison of ERT treated to untreated patients revealed that the odds to develop a first complication increased with age (OR 1.05 (95% CI: 1.0-1.1) per year, p\u2009=\u20090.012). For development of a first or second complication the odds declined with longer treatment duration (OR 0.81 (95% CI: 0.68-0.96) per year of ERT, p\u2009=\u20090.015;OR 0.52 (0.31-0.88), p\u2009=\u20090.014 respectively).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Long term ERT does not prevent disease progression, but the risk of developing a first or second complication declines with increasing treatment duration. ERT in advanced Fabry disease seems of doubtful benefit.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/1750-1172-8-47","type":"journal-article","created":{"date-parts":[[2013,3,25]],"date-time":"2013-03-25T07:27:58Z","timestamp":1364196478000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":145,"title":["Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain"],"prefix":"10.1186","volume":"8","author":[{"given":"Saskia M","family":"Rombach","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bouwien E","family":"Smid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Machtelt G","family":"Bouwman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabor E","family":"Linthorst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcel G W","family":"Dijkgraaf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla E M","family":"Hollak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,3,25]]},"reference":[{"issue":"21","key":"546_CR1","doi-asserted-by":"publisher","first-page":"1163","DOI":"10.1056\/NEJM196705252762101","volume":"276","author":"RO Brady","year":"1967","unstructured":"Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L: Enzymatic defect in Fabry's disease. 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