Systematic DNA Study for Fabry Disease in the End Stage Renal Disease Patients from a Southern Italy Area.
Autor: | Zizzo C; Institute of Biomedicine and Molecular Immunology 'A. Monroy', National Research Council, Palermo, Italy., Testa A; Institute of Clinical Physiology, Division of Nephrology, National Research Council, Reggio Calabria, Italy., Colomba P; Institute of Biomedicine and Molecular Immunology 'A. Monroy', National Research Council, Palermo, Italy., Postorino M; UOC di Nefrologia, Grande Ospedale Metropolitano Reggio Calabria, Reggio Calabria, Italy., Natale G; Department of Nephrology and Dialysis, G. Jazzolino Hospital, Vibo Valentia, Italy., Pini A; Cardio-Cerebrovascular Department, Luigi Sacco Hospital, Milano, Italy., Francofonte D; Institute of Biomedicine and Molecular Immunology 'A. Monroy', National Research Council, Palermo, Italy., Cammarata G; Institute of Biomedicine and Molecular Immunology 'A. Monroy', National Research Council, Palermo, Italy., Scalia S; Institute of Biomedicine and Molecular Immunology 'A. Monroy', National Research Council, Palermo, Italy., Sciarrino S; Institute of Biomedicine and Molecular Immunology 'A. Monroy', National Research Council, Palermo, Italy., Zoccali C; Institute of Clinical Physiology, Division of Nephrology, National Research Council, Reggio Calabria, Italy., Duro G; Institute of Biomedicine and Molecular Immunology 'A. Monroy', National Research Council, Palermo, Italy. |
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Jazyk: | angličtina |
Zdroj: | Kidney & blood pressure research [Kidney Blood Press Res] 2018; Vol. 43 (4), pp. 1344-1351. Date of Electronic Publication: 2018 Aug 10. |
DOI: | 10.1159/000492593 |
Abstrakt: | Background/aims: Fabry disease (FD) is a lysosomal storage disorder characterized by pervasive renal involvement. However, this disease is underdiagnosed in patient with chronic kidney disease (CKD), including those with end stage renal disease (ESRD), so their investigation represents an unexploited opportunity for early diagnosis of the disease and for its identification in relatives of affected patients. Methods: We investigated Fabry disease in a clinical and biological database including ESRD patients of unknown cause in a geographical area with 2 million residents. The study was based on state of art GLA gene sequencing and was extended to relatives of affected ESRD patients. Results: Among ESRD patients qualified for enrollment into this study, a previously undiagnosed young man harboring the mutation p.I91T was identified. The study of the proband's family led to the identification of 8 additional cases. In another ESRD male patient, we identified the functional polymorphism p.D313Y. Furthermore, in 55 ESRD patients (24.2%) we found intronic polymorphisms of uncertain functional relevance in the non-coding regions of the GLA gene. Conclusion: A comprehensive survey of ESRD patients in a geographical area of 2 million residents identified one undiagnosed case of Fabry disease and led to the identification of 8 additional cases among his relatives. Screening protocols starting from the dialysis population and upstream extended to families of affected individuals may be an effective strategy to maximize the early identification of subjects with Fabry disease. (© 2018 The Author(s). Published by S. Karger AG, Basel.) |
Databáze: | MEDLINE |
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