caa a22 4500 605478694 CHVBK 20210128100406.0 cr unu---uuuuu 210128e20151101xx s 000 0 eng 10.1007/s10741-015-9500-0 doi (NATIONALLICENCE)springer-10.1007/s10741-015-9500-0 Fabry's disease: an example of cardiorenal syndrome type 5 [Elektronische Daten] [Aashish Sharma, Marco Sartori, Jose Zaragoza, Gianluca Villa, Renhua Lu, Elena Faggiana, Alessandra Brocca, Luca Di Lullo, Sandro Feriozzi, Claudio Ronco] Cardiorenal syndrome type 5 (CRS-5) includes conditions where there is a simultaneous involvement of the heart and kidney from a systemic disorder. This is a bilateral organ cross talk. Fabry's disease (FD) is a devastating progressive inborn error of metabolism with lysosomal glycosphingolipid deposition in variety of cell types, capillary endothelial cells, renal, cardiac and nerve cells. Basic effect is absent or deficient activity of lysosomal exoglycohydrolase a-galactosidase A. Renal involvement consists of proteinuria, isosthenuria, altered tubular function, presenting in second or third decade leading to azotemia and end-stage renal disease in third to fifth decade mainly due to irreversible changes to glomerular, tubular and vascular structures, especially highlighted by podocytes foot process effacement. Cardiac involvement consists of left ventricular hypertrophy, right ventricular hypertrophy, arrhythmias (sinus node and conduction system impairment), diastolic dysfunction, myocardial ischemia, infarction, transmural replacement fibrosis, congestive heart failure and cardiac death. Management of FD is based on enzymatic replacement therapy and control of renal (with anti-proteinuric agents such as angiotensin-converting enzyme inhibitors—and/or angiotensin II receptor blockers), brain (coated aspirin, clopidogrel and statin to prevent strokes) and heart complications (calcium channel blockers for ischemic cardiomyopathy, warfarin and amiodarone or cardioverter device for arrhythmias). Springer Science+Business Media New York, 2015 Organ cross talk nationallicence Kidney disease nationallicence Cardiac disease nationallicence Fabry's disease nationallicence Cardiorenal syndrome 5 nationallicence ACEi : Angiotensin-converting enzyme inhibitor nationallicence ARBs : Angiotensin receptor blockers nationallicence BNP : Beta natriuretic peptide nationallicence Bp : Base pairs nationallicence Ca : Calcium nationallicence CHF : Congestive heart failure nationallicence CHO : Chinese hamster ovary nationallicence CrCl : Creatinine clearance nationallicence CRS : Cardiorenal syndrome nationallicence CTH : Ceramide trihexoside nationallicence DBS : Dried blood spots nationallicence DHPLC : Denaturing high-performance liquid chromatography nationallicence eGFR : Estimated glomerular filtration rate nationallicence EM : Electron microscopy nationallicence ERT : Enzyme replacement therapy nationallicence FD : Fabry's disease nationallicence Gb3 : Globotriaosylceramide nationallicence GLA : Galactosidase alpha nationallicence HR : Heart rate nationallicence ICD : Intracardiac defibrillator nationallicence IMT : Intimal-media thickening nationallicence K : Potassium nationallicence LPa : Lipoprotein a nationallicence LVH : Left ventricular hypertrophy nationallicence LVM : Left ventricle mass nationallicence MLPA : Multiplex ligation-dependent probe amplification nationallicence MRI : Magnetic resonance imaging nationallicence NSAID : Nonsteroidal anti-inflammatory drugs nationallicence RAAS : Renin-angiotensin-aldosterone system nationallicence RV : Right ventricle nationallicence RVH : Right ventricular hypertrophy nationallicence S1P : Sphingosine-1-phosphate nationallicence TGF-b1 : Transforming growth factor-beta 1 nationallicence Sharma Aashish International Renal Research Institute of Vicenza (IRRIV), 37, Viale Rodolfi, 36100, Vicenza, Italy aut Sartori Marco International Renal Research Institute of Vicenza (IRRIV), 37, Viale Rodolfi, 36100, Vicenza, Italy aut Zaragoza Jose International Renal Research Institute of Vicenza (IRRIV), 37, Viale Rodolfi, 36100, Vicenza, Italy aut Villa Gianluca International Renal Research Institute of Vicenza (IRRIV), 37, Viale Rodolfi, 36100, Vicenza, Italy aut Lu Renhua International Renal Research Institute of Vicenza (IRRIV), 37, Viale Rodolfi, 36100, Vicenza, Italy aut Faggiana Elena International Renal Research Institute of Vicenza (IRRIV), 37, Viale Rodolfi, 36100, Vicenza, Italy aut Brocca Alessandra International Renal Research Institute of Vicenza (IRRIV), 37, Viale Rodolfi, 36100, Vicenza, Italy aut Di Lullo Luca Department of Nephrology and Dialysis, L. Parodi - Delfino Hospital, Piazza A. Moro, 1, 00034, Colleferro, Roma, Italy aut Feriozzi Sandro Department of Nephrology and Dialysis, Ospedale Belcolle, Viterbo, Italy aut Ronco Claudio International Renal Research Institute of Vicenza (IRRIV), 37, Viale Rodolfi, 36100, Vicenza, Italy aut Heart Failure Reviews Springer US; http://www.springer-ny.com 20/6(2015-11-01), 689-708 1382-4147 20:6<689 2015 20 10741 https://doi.org/10.1007/s10741-015-9500-0 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s10741-015-9500-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Sharma Aashish International Renal Research Institute of Vicenza (IRRIV), 37, Viale Rodolfi, 36100, Vicenza, Italy aut NATIONALLICENCE 700 1- Sartori Marco International Renal Research Institute of Vicenza (IRRIV), 37, Viale Rodolfi, 36100, Vicenza, Italy aut NATIONALLICENCE 700 1- Zaragoza Jose International Renal Research Institute of Vicenza (IRRIV), 37, Viale Rodolfi, 36100, Vicenza, Italy aut NATIONALLICENCE 700 1- Villa Gianluca International Renal Research Institute of Vicenza (IRRIV), 37, Viale Rodolfi, 36100, Vicenza, Italy aut NATIONALLICENCE 700 1- Lu Renhua International Renal Research Institute of Vicenza (IRRIV), 37, Viale Rodolfi, 36100, Vicenza, Italy aut NATIONALLICENCE 700 1- Faggiana Elena International Renal Research Institute of Vicenza (IRRIV), 37, Viale Rodolfi, 36100, Vicenza, Italy aut NATIONALLICENCE 700 1- Brocca Alessandra International Renal Research Institute of Vicenza (IRRIV), 37, Viale Rodolfi, 36100, Vicenza, Italy aut NATIONALLICENCE 700 1- Di Lullo Luca Department of Nephrology and Dialysis, L. Parodi - Delfino Hospital, Piazza A. Moro, 1, 00034, Colleferro, Roma, Italy aut NATIONALLICENCE 700 1- Feriozzi Sandro Department of Nephrology and Dialysis, Ospedale Belcolle, Viterbo, Italy aut NATIONALLICENCE 700 1- Ronco Claudio International Renal Research Institute of Vicenza (IRRIV), 37, Viale Rodolfi, 36100, Vicenza, Italy aut NATIONALLICENCE 773 0- Heart Failure Reviews Springer US; http://www.springer-ny.com 20/6(2015-11-01), 689-708 1382-4147 20:6<689 2015 20 10741