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16-01-2024 | Fabry Disease | Review

Outcomes and management of kidney transplant recipients with Fabry disease: a review

Authors: Bo Yu, Mohamed G. Atta, Daniel C. Brennan, Sam Kant

Published in: Journal of Nephrology | Issue 3/2024

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Abstract

Fabry disease is an X-linked inheritable lysosomal storage disease caused by various mutations of the galactosidase α gene resulting in α-galactosidase deficiency. Chronic kidney disease (CKD) is one of the most significant consequences of Fabry disease, with risk of end-stage kidney disease (ESKD) in this population. Like for other patients with ESKD, kidney transplant is the optimal treatment for Fabry disease patients with ESKD. However, enzyme replacement therapy and newer Fabry disease treatments remain important to mitigate other end organ damage such as cardiomyopathy post transplantation. This review is a primer on Fabry disease, which examines the outcomes of disease in the context of kidney transplant prior to, and during, the enzyme replacement treatment era, medical treatment of kidney transplant recipients with Fabry disease, and progress in screening studies.

Graphical abstract

Literature
1.
go back to reference Klingelhofer D, Braun M, Seeger-Zybok RK, Quarcoo D, Bruggmann D, Groneberg DA (2020) Global research on Fabry’s disease: demands for a rare disease. Mol Genet Genomic Med 8(9):e1163PubMedPubMedCentralCrossRef Klingelhofer D, Braun M, Seeger-Zybok RK, Quarcoo D, Bruggmann D, Groneberg DA (2020) Global research on Fabry’s disease: demands for a rare disease. Mol Genet Genomic Med 8(9):e1163PubMedPubMedCentralCrossRef
2.
go back to reference Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L (1967) Enzymatic defect in Fabry’s disease Ceramidetrihexosidase deficiency. N Engl J Med 276(21):1163–1167PubMedCrossRef Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L (1967) Enzymatic defect in Fabry’s disease Ceramidetrihexosidase deficiency. N Engl J Med 276(21):1163–1167PubMedCrossRef
3.
go back to reference Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR (2003) Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138(4):338–346PubMedCrossRef Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR (2003) Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138(4):338–346PubMedCrossRef
4.
go back to reference Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A et al (2018) Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab 123(4):416–427PubMedCrossRef Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A et al (2018) Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab 123(4):416–427PubMedCrossRef
5.
go back to reference Doheny D, Srinivasan R, Pagant S, Chen B, Yasuda M, Desnick RJ (2018) Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995–2017. J Med Genet 55(4):261–268PubMedCrossRef Doheny D, Srinivasan R, Pagant S, Chen B, Yasuda M, Desnick RJ (2018) Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995–2017. J Med Genet 55(4):261–268PubMedCrossRef
6.
go back to reference Juchniewicz P, Kloska A, Tylki-Szymanska A, Jakobkiewicz-Banecka J, Wegrzyn G, Moskot M, Gabig-Ciminska M, Piotrowska E (2018) Female Fabry disease patients and X-chromosome inactivation. Gene 641:259–264PubMedCrossRef Juchniewicz P, Kloska A, Tylki-Szymanska A, Jakobkiewicz-Banecka J, Wegrzyn G, Moskot M, Gabig-Ciminska M, Piotrowska E (2018) Female Fabry disease patients and X-chromosome inactivation. Gene 641:259–264PubMedCrossRef
7.
go back to reference Mechtler TP, Stary S, Metz TF, De Jesus VR, Greber-Platzer S, Pollak A, Herkner KR, Streubel B, Kasper DC (2012) Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet 379(9813):335–341PubMedCrossRef Mechtler TP, Stary S, Metz TF, De Jesus VR, Greber-Platzer S, Pollak A, Herkner KR, Streubel B, Kasper DC (2012) Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet 379(9813):335–341PubMedCrossRef
8.
9.
go back to reference Barba-Romero MA, Deegan P, Giugliani R, Hughes D (2010) Does geographical location influence the phenotype of Fabry disease in women in Europe? Clin Genet 77(2):131–140PubMedCrossRef Barba-Romero MA, Deegan P, Giugliani R, Hughes D (2010) Does geographical location influence the phenotype of Fabry disease in women in Europe? Clin Genet 77(2):131–140PubMedCrossRef
10.
go back to reference Echevarria L, Benistan K, Toussaint A, Dubourg O, Hagege AA, Eladari D, Jabbour F, Beldjord C, De Mazancourt P, Germain DP (2016) X-chromosome inactivation in female patients with Fabry disease. Clin Genet 89(1):44–54PubMedCrossRef Echevarria L, Benistan K, Toussaint A, Dubourg O, Hagege AA, Eladari D, Jabbour F, Beldjord C, De Mazancourt P, Germain DP (2016) X-chromosome inactivation in female patients with Fabry disease. Clin Genet 89(1):44–54PubMedCrossRef
11.
go back to reference Del Pino M, Andres A, Bernabeu AA, de Juan-Rivera J, Fernandez E, de Dios Garcia Diaz J, Hernandez D, Luno J, Fernandez IM, Paniagua J et al (2018) Fabry nephropathy: an evidence-based narrative review. Kidney Blood Press Res 43(2):406–421PubMedCrossRef Del Pino M, Andres A, Bernabeu AA, de Juan-Rivera J, Fernandez E, de Dios Garcia Diaz J, Hernandez D, Luno J, Fernandez IM, Paniagua J et al (2018) Fabry nephropathy: an evidence-based narrative review. Kidney Blood Press Res 43(2):406–421PubMedCrossRef
12.
go back to reference West M, Nicholls K, Mehta A, Clarke JT, Steiner R, Beck M, Barshop BA, Rhead W, Mensah R, Ries M et al (2009) Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol 20(5):1132–1139PubMedPubMedCentralCrossRef West M, Nicholls K, Mehta A, Clarke JT, Steiner R, Beck M, Barshop BA, Rhead W, Mensah R, Ries M et al (2009) Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol 20(5):1132–1139PubMedPubMedCentralCrossRef
13.
go back to reference Madsen CV, Granqvist H, Petersen JH, Rasmussen AK, Lund AM, Oturai P, Sorensen SS, Feldt-Rasmussen U (2019) Age-related renal function decline in Fabry disease patients on enzyme replacement therapy: a longitudinal cohort study. Nephrol Dial Transplant 34(9):1525–1533PubMedCrossRef Madsen CV, Granqvist H, Petersen JH, Rasmussen AK, Lund AM, Oturai P, Sorensen SS, Feldt-Rasmussen U (2019) Age-related renal function decline in Fabry disease patients on enzyme replacement therapy: a longitudinal cohort study. Nephrol Dial Transplant 34(9):1525–1533PubMedCrossRef
14.
go back to reference Pisani A, Petruzzelli Annicchiarico L, Pellegrino A, Bruzzese D, Feriozzi S, Imbriaco M, Tedeschi E, Cocozza S, De Rosa D, Mignani R et al (2018) Parapelvic cysts, a distinguishing feature of renal Fabry disease. Nephrol Dial Transplant 33(2):318–323PubMedCrossRef Pisani A, Petruzzelli Annicchiarico L, Pellegrino A, Bruzzese D, Feriozzi S, Imbriaco M, Tedeschi E, Cocozza S, De Rosa D, Mignani R et al (2018) Parapelvic cysts, a distinguishing feature of renal Fabry disease. Nephrol Dial Transplant 33(2):318–323PubMedCrossRef
15.
go back to reference Silva CAB, Moura-Neto JA, Dos Reis MA, Vieira Neto OM, Barreto FC (2021) Renal manifestations of Fabry disease: a narrative review. Can J Kidney Health Dis 8:2054358120985627PubMedPubMedCentralCrossRef Silva CAB, Moura-Neto JA, Dos Reis MA, Vieira Neto OM, Barreto FC (2021) Renal manifestations of Fabry disease: a narrative review. Can J Kidney Health Dis 8:2054358120985627PubMedPubMedCentralCrossRef
16.
go back to reference Tondel C, Bostad L, Hirth A, Svarstad E (2008) Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Am J Kidney Dis 51(5):767–776PubMedCrossRef Tondel C, Bostad L, Hirth A, Svarstad E (2008) Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Am J Kidney Dis 51(5):767–776PubMedCrossRef
17.
go back to reference Philippart M, Franklin SS, Gordon A (1972) Reversal of an inborn sphingolipidosis (Fabry’s disease) by kidney transplantation. Ann Intern Med 77(2):195–200PubMedCrossRef Philippart M, Franklin SS, Gordon A (1972) Reversal of an inborn sphingolipidosis (Fabry’s disease) by kidney transplantation. Ann Intern Med 77(2):195–200PubMedCrossRef
18.
go back to reference (1975) Renal transplantation in congenital and metabolic diseases. A report from the ASC/NIH renal transplant registry. JAMA 232(2):148–153 (1975) Renal transplantation in congenital and metabolic diseases. A report from the ASC/NIH renal transplant registry. JAMA 232(2):148–153
19.
go back to reference Maizel SE, Simmons RL, Kjellstrand C, Fryd DS (1981) Ten-year experience in renal transplantation for Fabry’s disease. Transplant Proc 13(1 Pt 1):57–59PubMed Maizel SE, Simmons RL, Kjellstrand C, Fryd DS (1981) Ten-year experience in renal transplantation for Fabry’s disease. Transplant Proc 13(1 Pt 1):57–59PubMed
20.
go back to reference Tsakiris D, Simpson HK, Jones EH, Briggs JD, Elinder CG, Mendel S, Piccoli G, dos Santos JP, Tognoni G, Vanrenterghem Y, Report on management of renale failure in Europe, XXVI, 1995 et al (1996) Rare diseases in renal replacement therapy in the ERA-EDTA Registry. Nephrol Dial Transplant 11(Suppl 7):4–20PubMedCrossRef Tsakiris D, Simpson HK, Jones EH, Briggs JD, Elinder CG, Mendel S, Piccoli G, dos Santos JP, Tognoni G, Vanrenterghem Y, Report on management of renale failure in Europe, XXVI, 1995 et al (1996) Rare diseases in renal replacement therapy in the ERA-EDTA Registry. Nephrol Dial Transplant 11(Suppl 7):4–20PubMedCrossRef
21.
go back to reference Ojo A, Meier-Kriesche HU, Friedman G, Hanson J, Cibrik D, Leichtman A, Kaplan B (2000) Excellent outcome of renal transplantation in patients with Fabry’s disease. Transplantation 69(11):2337–2339PubMedCrossRef Ojo A, Meier-Kriesche HU, Friedman G, Hanson J, Cibrik D, Leichtman A, Kaplan B (2000) Excellent outcome of renal transplantation in patients with Fabry’s disease. Transplantation 69(11):2337–2339PubMedCrossRef
22.
go back to reference Shah T, Gill J, Malhotra N, Takemoto SK, Bunnapradist S (2009) Kidney transplant outcomes in patients with Fabry disease. Transplantation 87(2):280–285PubMedCrossRef Shah T, Gill J, Malhotra N, Takemoto SK, Bunnapradist S (2009) Kidney transplant outcomes in patients with Fabry disease. Transplantation 87(2):280–285PubMedCrossRef
23.
go back to reference Ng MS, Malacova E, Hurst C, Johnson DW, Mallett AJ (2021) Clinical Outcomes of People With Fabry Disease-ANZDATA Registry Study. Kidney Int Rep 6(9):2481–2485PubMedPubMedCentralCrossRef Ng MS, Malacova E, Hurst C, Johnson DW, Mallett AJ (2021) Clinical Outcomes of People With Fabry Disease-ANZDATA Registry Study. Kidney Int Rep 6(9):2481–2485PubMedPubMedCentralCrossRef
24.
go back to reference Ersozlu S, Desnick RJ, Huynh-Do U, Canaan-Kuhl S, Barbey F, Genitsch V, Mueller TF, Cheetham M, Flammer AJ, Schaub S et al (2018) Long-term outcomes of kidney transplantation in Fabry disease. Transplantation 102(11):1924–1933PubMedCrossRef Ersozlu S, Desnick RJ, Huynh-Do U, Canaan-Kuhl S, Barbey F, Genitsch V, Mueller TF, Cheetham M, Flammer AJ, Schaub S et al (2018) Long-term outcomes of kidney transplantation in Fabry disease. Transplantation 102(11):1924–1933PubMedCrossRef
27.
go back to reference Clement M, McGonigle RJ, Monkhouse PM, Keogh AM, Marten RH, Bewick M, Parsons V (1982) Renal transplantation in Anderson-Fabry disease. J R Soc Med 75(7):557–560PubMedPubMedCentralCrossRef Clement M, McGonigle RJ, Monkhouse PM, Keogh AM, Marten RH, Bewick M, Parsons V (1982) Renal transplantation in Anderson-Fabry disease. J R Soc Med 75(7):557–560PubMedPubMedCentralCrossRef
28.
go back to reference Gantenbein H, Bruder E, Burger HR, Briner J, Binswanger U (1995) Recurrence of Fabry’s disease in a renal allograft 14 years after transplantation. Nephrol Dial Transplant 10(2):287–289PubMed Gantenbein H, Bruder E, Burger HR, Briner J, Binswanger U (1995) Recurrence of Fabry’s disease in a renal allograft 14 years after transplantation. Nephrol Dial Transplant 10(2):287–289PubMed
29.
go back to reference Clarke JT, Guttmann RD, Wolfe LS, Beaudoin JG, Morehouse DD (1972) Enzyme replacement therapy by renal allotransplantation in Fabry’s disease. N Engl J Med 287(24):1215–1218PubMedCrossRef Clarke JT, Guttmann RD, Wolfe LS, Beaudoin JG, Morehouse DD (1972) Enzyme replacement therapy by renal allotransplantation in Fabry’s disease. N Engl J Med 287(24):1215–1218PubMedCrossRef
30.
go back to reference Likhitsup A, Helzberg JH, Alba LM, Larkin MK, Cummings LS, Island ER, Lustig RM, Forster J (2018) Persistent Alpha-galactosidase A Deficiency After Simultaneous Liver-kidney Transplantation in a Patient With Fabry Disease. Transplantation 102(8):e361PubMedCrossRef Likhitsup A, Helzberg JH, Alba LM, Larkin MK, Cummings LS, Island ER, Lustig RM, Forster J (2018) Persistent Alpha-galactosidase A Deficiency After Simultaneous Liver-kidney Transplantation in a Patient With Fabry Disease. Transplantation 102(8):e361PubMedCrossRef
31.
go back to reference Mignani R, Feriozzi S, Pisani A, Cioni A, Comotti C, Cossu M, Foschi A, Giudicissi A, Gotti E, Lozupone VA et al (2008) Agalsidase therapy in patients with Fabry disease on renal replacement therapy: a nationwide study in Italy. Nephrol Dial Transplant 23(5):1628–1635PubMedCrossRef Mignani R, Feriozzi S, Pisani A, Cioni A, Comotti C, Cossu M, Foschi A, Giudicissi A, Gotti E, Lozupone VA et al (2008) Agalsidase therapy in patients with Fabry disease on renal replacement therapy: a nationwide study in Italy. Nephrol Dial Transplant 23(5):1628–1635PubMedCrossRef
32.
go back to reference Pineda-Galindo LF, Moranchel-García L (2016) Beneficial effect of agalsidase beta on long term evolution of patients with Fabry disease and kidney transplant. Mol Genet Metab 117(2):S95CrossRef Pineda-Galindo LF, Moranchel-García L (2016) Beneficial effect of agalsidase beta on long term evolution of patients with Fabry disease and kidney transplant. Mol Genet Metab 117(2):S95CrossRef
33.
go back to reference Mignani R, Panichi V, Giudicissi A, Taccola D, Boscaro F, Feletti C, Moneti G, Cagnoli L (2004) Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry disease: a pilot study. Kidney Int 65(4):1381–1385PubMedCrossRef Mignani R, Panichi V, Giudicissi A, Taccola D, Boscaro F, Feletti C, Moneti G, Cagnoli L (2004) Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry disease: a pilot study. Kidney Int 65(4):1381–1385PubMedCrossRef
34.
go back to reference Schuller Y, Linthorst GE, Hollak CE, Van Schaik IN, Biegstraaten M (2016) Erratum to: pain management strategies for neuropathic pain in Fabry disease-a systematic review. BMC Neurol 16:67PubMedPubMedCentralCrossRef Schuller Y, Linthorst GE, Hollak CE, Van Schaik IN, Biegstraaten M (2016) Erratum to: pain management strategies for neuropathic pain in Fabry disease-a systematic review. BMC Neurol 16:67PubMedPubMedCentralCrossRef
35.
go back to reference Schuller Y, Linthorst GE, Hollak CE, Van Schaik IN, Biegstraaten M (2016) Pain management strategies for neuropathic pain in Fabry disease–a systematic review. BMC Neurol 16:25PubMedPubMedCentralCrossRef Schuller Y, Linthorst GE, Hollak CE, Van Schaik IN, Biegstraaten M (2016) Pain management strategies for neuropathic pain in Fabry disease–a systematic review. BMC Neurol 16:25PubMedPubMedCentralCrossRef
36.
go back to reference Bertoldi G, Carraro G, Ravarotto V, Di Vico V, Baldini Anastasio P, Vitturi N, Francini F, Stefanelli LF, Calo LA (2022) The effect of green tea as an adjuvant to enzyme replacement therapy on oxidative stress in fabry disease: a pilot study. Front Nutr 9:924710PubMedPubMedCentralCrossRef Bertoldi G, Carraro G, Ravarotto V, Di Vico V, Baldini Anastasio P, Vitturi N, Francini F, Stefanelli LF, Calo LA (2022) The effect of green tea as an adjuvant to enzyme replacement therapy on oxidative stress in fabry disease: a pilot study. Front Nutr 9:924710PubMedPubMedCentralCrossRef
37.
go back to reference Kim JH, Lee BH, Hyang Cho J, Kang E, Choi JH, Kim GH, Yoo HW (2016) Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes. J Hum Genet 61(11):923–929PubMedCrossRef Kim JH, Lee BH, Hyang Cho J, Kang E, Choi JH, Kim GH, Yoo HW (2016) Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes. J Hum Genet 61(11):923–929PubMedCrossRef
38.
go back to reference Kampmann C, Perrin A, Beck M (2015) Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years’ treatment. Orphanet J Rare Dis 10:125PubMedPubMedCentralCrossRef Kampmann C, Perrin A, Beck M (2015) Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years’ treatment. Orphanet J Rare Dis 10:125PubMedPubMedCentralCrossRef
39.
go back to reference Itier JM, Ret G, Viale S, Sweet L, Bangari D, Caron A, Le-Gall F, Benichou B, Leonard J, Deleuze JF et al (2014) Effective clearance of GL-3 in a human iPSC-derived cardiomyocyte model of Fabry disease. J Inherit Metab Dis 37(6):1013–1022PubMedCrossRef Itier JM, Ret G, Viale S, Sweet L, Bangari D, Caron A, Le-Gall F, Benichou B, Leonard J, Deleuze JF et al (2014) Effective clearance of GL-3 in a human iPSC-derived cardiomyocyte model of Fabry disease. J Inherit Metab Dis 37(6):1013–1022PubMedCrossRef
40.
go back to reference Mougenot P, Lidove O, Caillaud C, Arnaud P, Papo T (2008) Fabry disease and treatment with agalsidase alpha: unsuspected cardiac arrhythmia in two heterozygous women. In reference to pharmacovigilance. Eur J Clin Pharmacol 64(6):635–639PubMedCrossRef Mougenot P, Lidove O, Caillaud C, Arnaud P, Papo T (2008) Fabry disease and treatment with agalsidase alpha: unsuspected cardiac arrhythmia in two heterozygous women. In reference to pharmacovigilance. Eur J Clin Pharmacol 64(6):635–639PubMedCrossRef
41.
go back to reference Wyld MLR, De La Mata NL, Masson P, O’Lone E, Kelly PJ, Webster AC (2021) Cardiac mortality in kidney transplant patients: a population-based cohort study 1988–2013 in Australia and New Zealand. Transplantation 105(2):413–422PubMedCrossRef Wyld MLR, De La Mata NL, Masson P, O’Lone E, Kelly PJ, Webster AC (2021) Cardiac mortality in kidney transplant patients: a population-based cohort study 1988–2013 in Australia and New Zealand. Transplantation 105(2):413–422PubMedCrossRef
42.
go back to reference Cybulla M, Walter KN, Schwarting A, Divito R, Feriozzi S, Sunder-Plassmann G (2009) European FOSIG: kidney transplantation in patients with Fabry disease. Transpl Int 22(4):475–481PubMedCrossRef Cybulla M, Walter KN, Schwarting A, Divito R, Feriozzi S, Sunder-Plassmann G (2009) European FOSIG: kidney transplantation in patients with Fabry disease. Transpl Int 22(4):475–481PubMedCrossRef
43.
go back to reference Arends M, Biegstraaten M, Wanner C, Sirrs S, Mehta A, Elliott PM, Oder D, Watkinson OT, Bichet DG, Khan A et al (2018) Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study. J Med Genet 55(5):351–358PubMedCrossRef Arends M, Biegstraaten M, Wanner C, Sirrs S, Mehta A, Elliott PM, Oder D, Watkinson OT, Bichet DG, Khan A et al (2018) Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study. J Med Genet 55(5):351–358PubMedCrossRef
45.
go back to reference Lenders M, Neusser LP, Rudnicki M, Nordbeck P, Canaan-Kuhl S, Nowak A, Cybulla M, Schmitz B, Lukas J, Wanner C et al (2018) Dose-dependent effect of enzyme replacement therapy on neutralizing antidrug antibody titers and clinical outcome in patients with fabry disease. J Am Soc Nephrol 29(12):2879–2889PubMedPubMedCentralCrossRef Lenders M, Neusser LP, Rudnicki M, Nordbeck P, Canaan-Kuhl S, Nowak A, Cybulla M, Schmitz B, Lukas J, Wanner C et al (2018) Dose-dependent effect of enzyme replacement therapy on neutralizing antidrug antibody titers and clinical outcome in patients with fabry disease. J Am Soc Nephrol 29(12):2879–2889PubMedPubMedCentralCrossRef
46.
go back to reference Lenders M, Oder D, Nowak A, Canaan-Kuhl S, Arash-Kaps L, Drechsler C, Schmitz B, Nordbeck P, Hennermann JB, Kampmann C et al (2017) Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease. J Intern Med 282(3):241–253PubMedCrossRef Lenders M, Oder D, Nowak A, Canaan-Kuhl S, Arash-Kaps L, Drechsler C, Schmitz B, Nordbeck P, Hennermann JB, Kampmann C et al (2017) Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease. J Intern Med 282(3):241–253PubMedCrossRef
49.
50.
go back to reference van der Veen SJ, Hollak CEM, van Kuilenburg ABP, Langeveld M (2020) Developments in the treatment of Fabry disease. J Inherit Metab Dis 43(5):908–921PubMedPubMedCentralCrossRef van der Veen SJ, Hollak CEM, van Kuilenburg ABP, Langeveld M (2020) Developments in the treatment of Fabry disease. J Inherit Metab Dis 43(5):908–921PubMedPubMedCentralCrossRef
51.
go back to reference Kant S, Atta MG (2020) Therapeutic advances in Fabry disease: the future awaits. Biomed Pharmacother 131:110779PubMedCrossRef Kant S, Atta MG (2020) Therapeutic advances in Fabry disease: the future awaits. Biomed Pharmacother 131:110779PubMedCrossRef
53.
go back to reference Wanner C, Kimonis V, Politei J, Warnock DG, Uceyler N, Frey A, Cornelisse P, Hughes D (2022) Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study. Mol Genet Metab Rep 31:100862PubMedPubMedCentral Wanner C, Kimonis V, Politei J, Warnock DG, Uceyler N, Frey A, Cornelisse P, Hughes D (2022) Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study. Mol Genet Metab Rep 31:100862PubMedPubMedCentral
54.
go back to reference Khan A, Barber DL, Huang J, Rupar CA, Rip JW, Auray-Blais C, Boutin M, O’Hoski P, Gargulak K, McKillop WM et al (2021) Lentivirus-mediated gene therapy for Fabry disease. Nat Commun 12(1):1178PubMedPubMedCentralCrossRef Khan A, Barber DL, Huang J, Rupar CA, Rip JW, Auray-Blais C, Boutin M, O’Hoski P, Gargulak K, McKillop WM et al (2021) Lentivirus-mediated gene therapy for Fabry disease. Nat Commun 12(1):1178PubMedPubMedCentralCrossRef
55.
go back to reference Ruiz de Garibay AP, Solinis MA, Rodriguez-Gascon A (2013) Gene therapy for fabry disease: a review of the literature. BioDrugs 27(3):237–246PubMedCrossRef Ruiz de Garibay AP, Solinis MA, Rodriguez-Gascon A (2013) Gene therapy for fabry disease: a review of the literature. BioDrugs 27(3):237–246PubMedCrossRef
56.
go back to reference Zhu X, Yin L, Theisen M, Zhuo J, Siddiqui S, Levy B, Presnyak V, Frassetto A, Milton J, Salerno T et al (2019) Systemic mRNA therapy for the treatment of Fabry disease: preclinical studies in wild-type mice, Fabry mouse model, and wild-type non-human primates. Am J Hum Genet 104(4):625–637PubMedPubMedCentralCrossRef Zhu X, Yin L, Theisen M, Zhuo J, Siddiqui S, Levy B, Presnyak V, Frassetto A, Milton J, Salerno T et al (2019) Systemic mRNA therapy for the treatment of Fabry disease: preclinical studies in wild-type mice, Fabry mouse model, and wild-type non-human primates. Am J Hum Genet 104(4):625–637PubMedPubMedCentralCrossRef
58.
go back to reference van der Tol L, Smid BE, Poorthuis BJ, Biegstraaten M, Deprez RH, Linthorst GE, Hollak CE (2014) A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance. J Med Genet 51(1):1–9PubMedCrossRef van der Tol L, Smid BE, Poorthuis BJ, Biegstraaten M, Deprez RH, Linthorst GE, Hollak CE (2014) A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance. J Med Genet 51(1):1–9PubMedCrossRef
59.
go back to reference Sawada T, Kido J, Yoshida S, Sugawara K, Momosaki K, Inoue T, Tajima G, Sawada H, Mastumoto S, Endo F et al (2020) Newborn screening for Fabry disease in the western region of Japan. Mol Genet Metab Rep 22:100562PubMedPubMedCentral Sawada T, Kido J, Yoshida S, Sugawara K, Momosaki K, Inoue T, Tajima G, Sawada H, Mastumoto S, Endo F et al (2020) Newborn screening for Fabry disease in the western region of Japan. Mol Genet Metab Rep 22:100562PubMedPubMedCentral
60.
go back to reference Lidove O, Kaminsky P, Hachulla E, Leguy-Seguin V, Lavigne C, Marie I, Maillot F, Serratrice C, Masseau A, Cherin P et al (2012) Fabry disease The New Great Imposter: results of the French Observatoire in internal medicine departments (FIMeD). Clin Genet 81(6):571–577PubMedCrossRef Lidove O, Kaminsky P, Hachulla E, Leguy-Seguin V, Lavigne C, Marie I, Maillot F, Serratrice C, Masseau A, Cherin P et al (2012) Fabry disease The New Great Imposter: results of the French Observatoire in internal medicine departments (FIMeD). Clin Genet 81(6):571–577PubMedCrossRef
62.
go back to reference Michaud M, Mauhin W, Belmatoug N, Garnotel R, Bedreddine N, Catros F, Ancellin S, Lidove O, Gaches F (2020) When and how to diagnose Fabry disease in clinical pratice. Am J Med Sci 360(6):641–649PubMedCrossRef Michaud M, Mauhin W, Belmatoug N, Garnotel R, Bedreddine N, Catros F, Ancellin S, Lidove O, Gaches F (2020) When and how to diagnose Fabry disease in clinical pratice. Am J Med Sci 360(6):641–649PubMedCrossRef
63.
go back to reference Germain DP, Arad M, Burlina A, Elliott PM, Falissard B, Feldt-Rasmussen U, Hilz MJ, Hughes DA, Ortiz A, Wanner C et al (2019) The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease-A systematic literature review by a European panel of experts. Mol Genet Metab 126(3):224–235PubMedCrossRef Germain DP, Arad M, Burlina A, Elliott PM, Falissard B, Feldt-Rasmussen U, Hilz MJ, Hughes DA, Ortiz A, Wanner C et al (2019) The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease-A systematic literature review by a European panel of experts. Mol Genet Metab 126(3):224–235PubMedCrossRef
65.
go back to reference Terryn W, Cochat P, Froissart R, Ortiz A, Pirson Y, Poppe B, Serra A, Van Biesen W, Vanholder R, Wanner C (2013) Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice. Nephrol Dial Transplant 28(3):505–517PubMedCrossRef Terryn W, Cochat P, Froissart R, Ortiz A, Pirson Y, Poppe B, Serra A, Van Biesen W, Vanholder R, Wanner C (2013) Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice. Nephrol Dial Transplant 28(3):505–517PubMedCrossRef
66.
go back to reference Frabasil J, Durand C, Sokn S, Gaggioli D, Carozza P, Carabajal R, Politei J, Schenone AB (2019) Prevalence of Fabry disease in male dialysis patients: Argentinean screening study. JIMD Rep 48(1):45–52PubMedPubMedCentralCrossRef Frabasil J, Durand C, Sokn S, Gaggioli D, Carozza P, Carabajal R, Politei J, Schenone AB (2019) Prevalence of Fabry disease in male dialysis patients: Argentinean screening study. JIMD Rep 48(1):45–52PubMedPubMedCentralCrossRef
67.
go back to reference Wuhl E, van Stralen KJ, Wanner C, Ariceta G, Heaf JG, Bjerre AK, Palsson R, Duneau G, Hoitsma AJ, Ravani P et al (2014) Renal replacement therapy for rare diseases affecting the kidney: an analysis of the ERA-EDTA Registry. Nephrol Dial Transplant 29(Suppl 4):iv1–iv8PubMedCrossRef Wuhl E, van Stralen KJ, Wanner C, Ariceta G, Heaf JG, Bjerre AK, Palsson R, Duneau G, Hoitsma AJ, Ravani P et al (2014) Renal replacement therapy for rare diseases affecting the kidney: an analysis of the ERA-EDTA Registry. Nephrol Dial Transplant 29(Suppl 4):iv1–iv8PubMedCrossRef
68.
go back to reference Nagata A, Nasu M, Kaida Y, Nakayama Y, Kurokawa Y, Nakamura N, Shibata R, Hazama T, Tsukimura T, Togawa T et al (2021) Screening of Fabry disease in patients with chronic kidney disease in Japan. Nephrol Dial Transplant 37(1):115–125PubMedPubMedCentralCrossRef Nagata A, Nasu M, Kaida Y, Nakayama Y, Kurokawa Y, Nakamura N, Shibata R, Hazama T, Tsukimura T, Togawa T et al (2021) Screening of Fabry disease in patients with chronic kidney disease in Japan. Nephrol Dial Transplant 37(1):115–125PubMedPubMedCentralCrossRef
70.
go back to reference Minami M, Mizuma E, Nakahara M, Oda Y, Yoshimine H, Tokunaga K, Mitsuke A, Yamada Y, Enokida H, Masutani K et al (2021) A case of latent heterozygous Fabry disease in a female living kidney donor candidate. CEN Case Rep 10(1):30–34PubMedCrossRef Minami M, Mizuma E, Nakahara M, Oda Y, Yoshimine H, Tokunaga K, Mitsuke A, Yamada Y, Enokida H, Masutani K et al (2021) A case of latent heterozygous Fabry disease in a female living kidney donor candidate. CEN Case Rep 10(1):30–34PubMedCrossRef
71.
go back to reference Paull LS, Lipinski MJ, Wilson WG, Lipinski SE (2012) Female with Fabry disease unknowingly donates affected kidney to sister: a call for pre-transplant genetic testing. JIMD Rep 4:1–4PubMed Paull LS, Lipinski MJ, Wilson WG, Lipinski SE (2012) Female with Fabry disease unknowingly donates affected kidney to sister: a call for pre-transplant genetic testing. JIMD Rep 4:1–4PubMed
72.
go back to reference Andrade J, Waters PJ, Singh RS, Levin A, Toh BC, Vallance HD, Sirrs S (2008) Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test. Clin J Am Soc Nephrol 3(1):139–145PubMedPubMedCentralCrossRef Andrade J, Waters PJ, Singh RS, Levin A, Toh BC, Vallance HD, Sirrs S (2008) Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test. Clin J Am Soc Nephrol 3(1):139–145PubMedPubMedCentralCrossRef
73.
go back to reference Wallin EF, Clatworthy MR, Pritchard NR (2011) Fabry disease: results of the first UK hemodialysis screening study. Clin Nephrol 75(6):506–510PubMedCrossRef Wallin EF, Clatworthy MR, Pritchard NR (2011) Fabry disease: results of the first UK hemodialysis screening study. Clin Nephrol 75(6):506–510PubMedCrossRef
74.
go back to reference Battaglia Y, Fiorini F, Azzini C, Esposito P, De Vito A, Granata A, Storari A, Mignani R (2021) Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis. Front Med (Lausanne) 8:640876PubMedCrossRef Battaglia Y, Fiorini F, Azzini C, Esposito P, De Vito A, Granata A, Storari A, Mignani R (2021) Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis. Front Med (Lausanne) 8:640876PubMedCrossRef
75.
go back to reference Mallett A, Kearey PJ, Cameron A, Healy HG, Denaro C, Thomas M, Lee VW, Stark SL, Fuller M, Wang Z et al (2022) The prevalence of Fabry disease in a statewide chronic kidney disease cohort-Outcomes of the aCQuiRE (Ckd.Qld fabRy Epidemiology) study. BMC Nephrol 23(1):169PubMedPubMedCentralCrossRef Mallett A, Kearey PJ, Cameron A, Healy HG, Denaro C, Thomas M, Lee VW, Stark SL, Fuller M, Wang Z et al (2022) The prevalence of Fabry disease in a statewide chronic kidney disease cohort-Outcomes of the aCQuiRE (Ckd.Qld fabRy Epidemiology) study. BMC Nephrol 23(1):169PubMedPubMedCentralCrossRef
76.
go back to reference Donati D, Novario R, Gastaldi L (1987) Natural history and treatment of uremia secondary to Fabry’s disease: an European experience. Nephron 46(4):353–359PubMedCrossRef Donati D, Novario R, Gastaldi L (1987) Natural history and treatment of uremia secondary to Fabry’s disease: an European experience. Nephron 46(4):353–359PubMedCrossRef
77.
go back to reference Mazzarella V, Splendiani G, Tozzo C, Tisone G, Pisani F, Iaria G, Casciani CU (1997) Renal transplantation in patients with hereditary kidney disease: our experience. In: Conte F, Meroni M, Battini G, Sessa A (eds) Hereditary kidney diseases, vol 122. Karger, BaselCrossRef Mazzarella V, Splendiani G, Tozzo C, Tisone G, Pisani F, Iaria G, Casciani CU (1997) Renal transplantation in patients with hereditary kidney disease: our experience. In: Conte F, Meroni M, Battini G, Sessa A (eds) Hereditary kidney diseases, vol 122. Karger, BaselCrossRef
78.
go back to reference Inderbitzin D, Avital I, Largiader F, Vogt B, Candinas D (2005) Kidney transplantation improves survival and is indicated in Fabry’s disease. Transplant Proc 37(10):4211–4214PubMedCrossRef Inderbitzin D, Avital I, Largiader F, Vogt B, Candinas D (2005) Kidney transplantation improves survival and is indicated in Fabry’s disease. Transplant Proc 37(10):4211–4214PubMedCrossRef
79.
go back to reference Kleinert J, Kotanko P, Spada M, Pagliardini S, Paschke E, Paul K, Voigtländer T, Wallner M, Kramar R, Stummvoll HK et al (2009) Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria. Transpl Int 22(3):287–292PubMedCrossRef Kleinert J, Kotanko P, Spada M, Pagliardini S, Paschke E, Paul K, Voigtländer T, Wallner M, Kramar R, Stummvoll HK et al (2009) Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria. Transpl Int 22(3):287–292PubMedCrossRef
Metadata
Title
Outcomes and management of kidney transplant recipients with Fabry disease: a review
Authors
Bo Yu
Mohamed G. Atta
Daniel C. Brennan
Sam Kant
Publication date
16-01-2024
Publisher
Springer International Publishing
Published in
Journal of Nephrology / Issue 3/2024
Print ISSN: 1121-8428
Electronic ISSN: 1724-6059
DOI
https://doi.org/10.1007/s40620-023-01853-z

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