Prevalence of Fabry disease GLA variants among patients with parapelvic cysts: a Multicenter Italian Cohort Study
Year: 2026
Type: article
Study design: Observational Study
Abstract: BACKGROUND: 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. METHODS: From November 2022 to September 2024, we conducted a multicenter cohort study on patients referred to 15 Italian Nephrology Units. The prevalence of GLA variants among patients with parapelvic cysts was compared to the prevalence of Fabry disease in newborns and in chronic kidney disease (CKD )patients. RESULTS: Among 306 enrolled patients with parapelvic cysts, we identified seven different variants in the GLA gene in eight patients (4 females, 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 variants 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 <.0001; 11.07, 95%CI: 4.89; 25.06). Our results showed a prevalence of GLA variants 200 times higher compared to Italian newborn screening programs. CONCLUSION: Our study is the first to analyze the prevalence of GLA variants 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.
Source: Journal of Nephrology
Authors: Ivana Capuano, Eleonora Riccio, Teodolinda Di Risi, Pasquale Buonanno, Maurizio Gallieni, Rosario Cianci, Giuseppe Grandaliano, Calogero Lino Cirami, Gianni Carraro, Laura Econimo, Pasquale Esposito, Angelica Parodi, Gaetano La Manna, Loreto Gesualdo, Federico Pieruzzi, Giuseppe Castellano, Dario Roccatello, Domenico Santoro, Yuri Battaglia, Concetta Gangemi, Francesco Marino, Giuseppe Gigliotti, Antonio Pisani
Institutions: Federico II University Hospital, University of Naples Federico II, University of Milan, Sapienza University of Rome, Agostino Gemelli University Polyclinic, Istituti di Ricovero e Cura a Carattere Scientifico, Azienda Ospedaliero-Universitaria Careggi, University of Padua, Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia, Ospedale Policlinico San Martino, University of Genoa, University of Bologna, University of Bari Aldo Moro, Azienda Ospedaliera San Gerardo, University of Milano-Bicocca, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Ospedale San Giovanni Bosco, University of Turin, University of Messina, Azienda Ospedaliera Universitaria Policlinico "G. Martino", University of Verona, Ospedale P. Pederzoli – Casa di Cura Privata S.p.a.
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $4,337
Funder: Sanofi
Award: G8953413390
OpenAlex ID: W7203680010