Antonio Pisani1, Luigi Petruzzelli Annicchiarico1, Angela Pellegrino1, Dario Bruzzese2, Sandro Feriozzi3, Massimo Imbriaco4, Enrico Tedeschi4, Sirio Cocozza4, Dario De Rosa4, Renzo Mignani5, Massimiliano Veroux6, Yuri Battaglia7, Daniela Concolino8, Simona Sestito8, Federico Pieruzzi9, Leonardo Caroti10, Raffaele Manna11, Carmela Zizzo12, Michele Santangelo13, Massimo Sabbatini1, Eleonora Riccio14. 1. Chair of Nephrology, Department of Public Health, University Federico II of Naples, Naples, Italy. 2. Chair of Statistics, Department of Public Health, University Federico II of Naples, Naples, Italy. 3. Nephrology and Dialysis Department, Belcolle Hospital, Viterbo, Italy. 4. Department of Radiology, Federico II University of Naples, Naples, Italy. 5. Nephrology and Dialysis Unit, Infermi Hospital, Rimini, Italy. 6. Department of Medical and Surgical Sciences and Advanced Technologies GF Ingrassia, University Hospital of Catania, Catania, Italy. 7. UOC Nephrology and Dialysis, Ferrara, Italy. 8. Department of Pediatrics, University Magna Graecia, Catanzaro, Italy. 9. Nephrology Unit, University of Milano-Bicocca, Milan, Italy. 10. Nephrology Unit, Careggi University Hospital, Florence, Italy. 11. Periodic Fever Research Centre, Catholic University of the Sacred Heart, Rome, Italy. 12. Institute of Biomedicine and Molecular Immunology, National Research Council, Palermo, Italy. 13. Department of Advanced Biomedical Sciences-UO General Surgery, University Federico II of Naples, Naples, Italy. 14. Chair of Nephrology, Second University of Naples, Naples, Italy.
Abstract
Background: Fabry's disease (FD) is a rare, multi-organ lysosomal disease, caused by the deficiency of the enzyme α-galactosidase A, and is difficult to diagnose. Although parapelvic cysts (PC) were previously associated with FD, their prevalence and significance are unclear. Methods: The present study aimed to: (i) evaluate, by renal ultrasound, the real prevalence of PC and of their determinants in a multicentre, nationwide cohort of FD patients (n = 173, Study 1) and (ii) ascertain whether a greater accuracy of PC detection improved their identification, in FD patients from a single centre (n = 67, Study 2). In both studies, for each FD patient, an age- and renal function-matched subject was selected for comparison (1:1). Results: In Study 1, PC were detected in 28.9% of FD subjects and in only 1.1% of control subjects (P < 0.001). The presence of other renal abnormalities did not differ between the groups, nor differences exist in the main demographic and laboratory parameters between the groups. In Study 2, the greater accuracy of ultrasound increased PC prevalence from 29.8% to 43.3% in the same subjects (P < 0.05). In both studies, no correlation was detected between PC and the main demographic, clinical and biochemical parameters, including use of enzyme replacement therapy (P < 0.1, minimum value). Finally, no difference existed between FD patients with and without PC. Conclusions: The present study suggests that the presence of PC in renal patients should alert physicians to consider the diagnosis of FD, primarily in subjects with an unclear family history of renal disease and in the presence of other stigmata of the disease.
Background: Fabry's disease (FD) is a rare, multi-organ lysosomal disease, caused by the deficiency of the enzyme α-galactosidase A, and is difficult to diagnose. Although parapelvic cysts (PC) were previously associated with FD, their prevalence and significance are unclear. Methods: The present study aimed to: (i) evaluate, by renal ultrasound, the real prevalence of PC and of their determinants in a multicentre, nationwide cohort of FDpatients (n = 173, Study 1) and (ii) ascertain whether a greater accuracy of PC detection improved their identification, in FDpatients from a single centre (n = 67, Study 2). In both studies, for each FDpatient, an age- and renal function-matched subject was selected for comparison (1:1). Results: In Study 1, PC were detected in 28.9% of FD subjects and in only 1.1% of control subjects (P < 0.001). The presence of other renal abnormalities did not differ between the groups, nor differences exist in the main demographic and laboratory parameters between the groups. In Study 2, the greater accuracy of ultrasound increased PC prevalence from 29.8% to 43.3% in the same subjects (P < 0.05). In both studies, no correlation was detected between PC and the main demographic, clinical and biochemical parameters, including use of enzyme replacement therapy (P < 0.1, minimum value). Finally, no difference existed between FDpatients with and without PC. Conclusions: The present study suggests that the presence of PC in renal patients should alert physicians to consider the diagnosis of FD, primarily in subjects with an unclear family history of renal disease and in the presence of other stigmata of the disease.
Authors: Filippo Pinto E Vairo; Pavel N Pichurin; Fernando C Fervenza; Samih H Nasr; Kevin Mills; Christopher T Schmitz; Eric W Klee; Sandra M Herrmann Journal: BMC Nephrol Date: 2020-08-13 Impact factor: 2.388