{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T01:41:27Z","timestamp":1792633287460,"version":"4.5.0"},"reference-count":26,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:00:00Z","timestamp":1787011200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004339","name":"Sanofi","doi-asserted-by":"publisher","award":["SGZ202113595"],"award-info":[{"award-number":["SGZ202113595"]}],"id":[{"id":"10.13039\/100004339","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,10,22]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Fabry disease is a rare X-linked disorder characterized by the accumulation of sphingolipids in various vital systems, leading to multiple organ damage. As previous data showed the association between Fabry disease and parapelvic cysts, the aim of our work was to evaluate the prevalence of GLA variants in patients with parapelvic cysts.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>From November 2022 to September 2024, we conducted a multicenter cohort study on patients referred to 15 Italian Nephrology Units. The prevalence of GLA\u00a0variants among patients with parapelvic cysts was compared to the prevalence of Fabry disease in newborns and in chronic kidney disease (CKD )patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Among 306 enrolled patients with parapelvic cysts, we identified seven different variants in the GLA\u00a0gene in eight patients (4\u00a0females, 4 males) (1.3%, 1.3%, respectively): three patients with two different pathogenic variants (2 males, 1 female) (0.65%, 0.32%, respectively), two patients with variants of uncertain significance (VUS) (2 males) (0.65%) and three with benign variants (3 females) (0.98%). The overall prevalence of GLA\u00a0variants in our population was 2.6%, which is 11-fold higher than in CKD patients not on dialysis (ND) (0.24%), and this difference resulted statistically significant (P &amp;lt;.0001; 11.07, 95%CI: 4.89; 25.06). Our results showed a prevalence of GLA\u00a0variants 200 times higher compared to Italian newborn screening programs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our study is the first to analyze the prevalence of GLA\u00a0variants in patients with parapelvic cysts, showing results that are significantly higher compared to CKD-ND patients and the general population. Parapelvic cyst identification, even before clinical manifestations, is crucial for early Fabry disease diagnosis and treatment.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/joneph\/aajag122","type":"journal-article","created":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T11:47:04Z","timestamp":1777031224000},"page":"1420-1426","source":"Crossref","is-referenced-by-count":0,"title":["Prevalence of Fabry disease\n                    <i>GLA<\/i>\n                    \u00a0variants among patients with parapelvic cysts: a Multicenter Italian Cohort Study"],"prefix":"10.1093","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6559-196X","authenticated-orcid":false,"given":"Ivana","family":"Capuano","sequence":"first","affiliation":[{"name":"Department of Public Health, Chair of Nephrology, University of Naples \u201cFederico II\u201d , Via Pansini 5, Naples 80131 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Riccio","sequence":"additional","affiliation":[{"name":"Department of Public Health, Chair of Nephrology, University of Naples \u201cFederico II\u201d , Via Pansini 5, Naples 80131 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teodolinda","family":"Di Risi","sequence":"additional","affiliation":[{"name":"Department of Public Health, Chair of Nephrology, University of Naples \u201cFederico II\u201d , Via Pansini 5, Naples 80131 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7933-6209","authenticated-orcid":false,"given":"Pasquale","family":"Buonanno","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Reproductive and Odontostomatological Sciences, University of Naples \u201cFederico II\u201d , via Sergio Pansini 5, Naples 80100 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2011-2160","authenticated-orcid":false,"given":"Maurizio","family":"Gallieni","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Clinical Sciences, University of Milano , Milano 20157 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosario","family":"Cianci","sequence":"additional","affiliation":[{"name":"Department of Translational and Precision Medicine, Sapienza University of Rome , Rome 00185 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Grandaliano","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS , Rome ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Calogero Lino","family":"Cirami","sequence":"additional","affiliation":[{"name":"Nephrology, Dialysis and Transplantation Unit, Careggi University Hospital , Florence ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianni","family":"Carraro","sequence":"additional","affiliation":[{"name":"Nephrology, Dialysis and Transplantation Unit, Department of Medicine, University of Padova , Via Giustiniani, 2, Padua 35128 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Econimo","sequence":"additional","affiliation":[{"name":"Nephrology Unit, Spedali Civili Hospital, ASST Spedali Civili di Brescia , Brescia ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0834-5586","authenticated-orcid":false,"given":"Pasquale","family":"Esposito","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Nephrology, Dialysis and Transplantation, University of Genoa and IRCCS Ospedale Policlinico San Martino , Genoa ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelica","family":"Parodi","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Nephrology, Dialysis and Transplantation, University of Genoa and IRCCS Ospedale Policlinico San Martino , Genoa ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5473-8551","authenticated-orcid":false,"given":"Gaetano","family":"La Manna","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna , Bologna 40138 ,","place":["Italy"]},{"name":"Nephrology, Dialysis and Renal Transplant Unit, IRCCS Azienda Ospedaliera Universitaria di Bologna , Bologna 40138 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Loreto","family":"Gesualdo","sequence":"additional","affiliation":[{"name":"Department of Precision and Regenerative Medicine and Ionian Area (DiMePre-J) Nephrology, Dialysis and Transplantation Unit, University of Bari Aldo Moro , Bari ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Pieruzzi","sequence":"additional","affiliation":[{"name":"Nephrology, Fondazione IRCCS San Gerardo dei Tintori , Monza ,","place":["Italy"]},{"name":"Department of Medicine and Surgery, University of Milano-Bicocca , Milan ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0153-3795","authenticated-orcid":false,"given":"Giuseppe","family":"Castellano","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Dialysis and Kidney Transplantation, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico di Milano , Milan 20122 ,","place":["Italy"]},{"name":"Department of Clinical Science and Community Health, University of Milan , Milan ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dario","family":"Roccatello","sequence":"additional","affiliation":[{"name":"University Center of Excellence on Nephrologic, Rheumatologic and Rare Diseases (ERK-Net, ERN-Reconnect and RITA-ERN Member), Nephrology and Dialysis Unit and Center of Immuno-Rheumatology and Rare Diseases (CMID), Coordinating Center of the Interregional Network for Rare Diseases of Piedmont and Aosta Valley (North-West Italy), Department of Clinical and Biological Sciences, University of Turin and San Giovanni Bosco Hub Hospital, ASL Citt\u00e0 di Torino , Turin ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico","family":"Santoro","sequence":"additional","affiliation":[{"name":"Unit of Nephrology and Dialysis, Department of Clinical and Experimental Medicine, A.O.U. \u201cG. 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