title: Parapelvic cysts, a distinguishing feature of renal Fabry disease.
abstract: 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.
  
  
  
  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).
  
  
  
  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.
  
  
  
  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.affiliation: Chair of Nephrology, Department of Public Health, University Federico II of Naples, Naples, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Pisani
authors.affiliation: Chair of Nephrology, Department of Public Health, University Federico II of Naples, Naples, Italy.
authors.forename: Luigi
authors.initials: L
authors.lastname: Petruzzelli Annicchiarico
authors.affiliation: Chair of Nephrology, Department of Public Health, University Federico II of Naples, Naples, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Pellegrino
authors.affiliation: Chair of Statistics, Department of Public Health, University Federico II of Naples, Naples, Italy.
authors.forename: Dario
authors.initials: D
authors.lastname: Bruzzese
authors.affiliation: Nephrology and Dialysis Department, Belcolle Hospital, Viterbo, Italy.
authors.forename: Sandro
authors.initials: S
authors.lastname: Feriozzi
authors.affiliation: Department of Radiology, Federico II University of Naples, Naples, Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Imbriaco
authors.affiliation: Department of Radiology, Federico II University of Naples, Naples, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Tedeschi
authors.affiliation: Department of Radiology, Federico II University of Naples, Naples, Italy.
authors.forename: Sirio
authors.initials: S
authors.lastname: Cocozza
authors.affiliation: Department of Radiology, Federico II University of Naples, Naples, Italy.
authors.forename: Dario
authors.initials: D
authors.lastname: De Rosa
authors.affiliation: Nephrology and Dialysis Unit, Infermi Hospital, Rimini, Italy.
authors.forename: Renzo
authors.initials: R
authors.lastname: Mignani
authors.affiliation: Department of Medical and Surgical Sciences and Advanced Technologies GF Ingrassia, University Hospital of Catania, Catania, Italy.
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Veroux
authors.affiliation: UOC Nephrology and Dialysis, Ferrara, Italy.
authors.forename: Yuri
authors.initials: Y
authors.lastname: Battaglia
authors.affiliation: Department of Pediatrics, University Magna Graecia, Catanzaro, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Concolino
authors.affiliation: Department of Pediatrics, University Magna Graecia, Catanzaro, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Sestito
authors.affiliation: Nephrology Unit, University of Milano-Bicocca, Milan, Italy.
authors.forename: Federico
authors.initials: F
authors.lastname: Pieruzzi
authors.affiliation: Nephrology Unit, Careggi University Hospital, Florence, Italy.
authors.forename: Leonardo
authors.initials: L
authors.lastname: Caroti
authors.affiliation: Periodic Fever Research Centre, Catholic University of the Sacred Heart, Rome, Italy.
authors.forename: Raffaele
authors.initials: R
authors.lastname: Manna
authors.affiliation: Institute of Biomedicine and Molecular Immunology, National Research Council, Palermo, Italy.
authors.forename: Carmela
authors.initials: C
authors.lastname: Zizzo
authors.affiliation: Department of Advanced Biomedical Sciences-UO General Surgery, University Federico II of Naples, Naples, Italy.
authors.forename: Michele
authors.initials: M
authors.lastname: Santangelo
authors.affiliation: Chair of Nephrology, Department of Public Health, University Federico II of Naples, Naples, Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Sabbatini
authors.affiliation: Chair of Nephrology, Second University of Naples, Naples, Italy.
authors.forename: Eleonora
authors.initials: E
authors.lastname: Riccio
mesh_terms: D000328:Adult; D003430:Cross-Sectional Studies; D000795:Fabry Disease / Q000000981:diagnostic imaging / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007558:Italy / Q000453:epidemiology; D052177:Kidney Diseases, Cystic / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D011379:Prognosis; D012189:Retrospective Studies; D014463:Ultrasonography / Q000379:methods; D000519:alpha-Galactosidase / Q000378:metabolism
chemical_list: D000519:alpha-Galactosidase
keywords: Fabry disease; biomarkers; chronic renal failure; parapelvic cyst; ultrasonography