Keywords
Diagnosis
Enzyme Replacement Therapy
Glycosphingolipids
Consensus Conference
How to Cite
Abstract
Background: Fabry disease behaves like a chronic condition, with multisystem involvement and high health care costs.
Objective: To generate evidence-based recommendations for the diagnosis, treatment and follow-up of the Anderson-Fabry disease with renal commitment, through an expert consensus.
Methodology: Based on the search of evidence in PubMed, Embase and Google Scholar between 2010 and August, 2020, recommendations on the definition, diagnosis and treatment of Fabry Disease in adult population were formulated after consulting with an expert panel through the modified Delphi consensus methodology. The quality of the documents was assessed by methodological team applying tools according to the type of document included.
Results: 53 recommendations for the definition, diagnosis and treatment were formulated. A panel of five national and international clinical experts external to the developer group participated in the pre-consensus consultation and 50 recommendations were agreed upon for their inclusion. For 3 recommendations, a formal consensus session which took place in one round was required, and 3 new recommendations were incorporated.
Conclusions: The recommendations based on evidence and clinical expertise will allow us to guide the diagnosis and treatment of patients with Fabry disease with renal involvement or suspicion thereof in a standardized manner at national and regional levels.
References
Ortiz A, Kanters S, Hamed A, DasMahapatra P, Poggio E, Maski M, et al. Agalsidase beta treatment slows estimated glomerular filtration rate loss in classic Fabry disease patients: results from an individual patient data meta-analysis. Clin Kidney J. 2020;1-11. DOI: https://doi.org/10.1093/ckj/sfaa065
Aratani S, Yamakawa H, Suzuki S, Otsuka T, Sakai Y, Shimizu A, et al. A case of female Fabry disease revealed by renal biopsy. CEN Case Rep. 2020;9(1):24-9. DOI: https://doi.org/10.1007/s13730-019-00420-5
Jaurretche S, Perez GR, Venera G. High Lyso-Gb3 Plasma Levels Associated with Decreased miR-29 and miR-200 Urinary Excretion in Young Non-Albuminuric Male Patient with Classic Fabry Disease. Case Rep Nephrol. 2019:4980942. DOI: https://doi.org/10.1155/2019/4980942
Germain DP, Elliott PM, Falissard B, Fomin VV, Hilz MJ, Jovanovic A, et al. The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts. Mol Genet Metab reports. 2019 jun.;19:100454. DOI: https://doi.org/10.1016/j.ymgmr.2019.100454
Riccio E, Sabbatini M, Capuano I, Pisani A. Early Biomarkers of Fabry Nephropathy: A Review of the Literature. Nephron. 2019;143(4):274-81. DOI: https://doi.org/10.1159/000502907
Roggero L, Auricchio S, Pieruzzi F. La terapia enzimatica sostitutiva nella malattia di Fabry. G di Tec Nefrol Dial. 2019;31(3):197-200. DOI: https://doi.org/10.33393/gcnd.2019.528
van der Tol L, Svarstad E, Ortiz A, Tøndel C, Oliveira JP, Vogt L, et al. Chronic kidney disease and an uncertain diagnosis of Fabry disease: Approach to a correct diagnosis. Mol Genet Metab. 2015;114(2):242-7. DOI: http://dx.doi.org/10.1016/j.ymgme.2014.08.007
García-Trabanino R, Badilla-Porras R, Carazo K, Courville K, de Luna E, Lemus P, et al. Consenso del Grupo Centroamericano y del Caribe para el Estudio y Tratamiento de la Enfermedad de Fabry. 2017;4(1):27-38. DOI: https://doi.org/10.1016/j.nefrol.2016.11.003
Terryn W, Cochat P, Froissart R, Ortiz A, Pirson Y, Poppe B, et al. Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice. Nephrol Dial Transplant. 2013 mzo.;28(3):505-17. DOI: https://doi.org/10.1093/ndt/gfs526
Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, et al. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet. 2006 jul.;79(1):31-40. DOI: https://doi.org/10.1086/504601
Turkmen K, Baloglu I. Fabry disease: where are we now? Int Urol Nephrol. 2020 jul.;52(11):2113-22. DOI: https://doi.org/10.1007/s11255-020-02546-3
Colpart P, Félix S. Fabry Nephropathy. Arch Pathol Lab Med. 2017 ag.;141(8):1127-31. DOI: https://doi.org/10.5858/arpa.2016-0418-RS
Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, et al. Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab. 2018 abr.;123(4):416-27. DOI: https://doi.org/10.1016/j.ymgme.2018.02.014
Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, et al. European expert consensus statement on therapeutic goals in Fabry disease. Mol Genet Metab. 2018;124(3):189-203. DOI: https://doi.org/10.1016/j.ymgme.2018.06.004
Calderón-Sandubete EJ, Briones-Pérez E, Alonso-Ortiz C, Santamaría-Olmo R, López-Mendoza M, Barcos-Martínez M, et al. Guía de práctica clínica multidisciplinar española sobre la enfermedad de Anderson-Fabry en adultos. I: Método y recomendaciones. Rev Clin Esp. 2019;219(4):200-7. DOI: https://doi.org/10.1016/j.rce.2018.09.017
Germain DP. Fabry disease. Orphanet J Rare Dis. 2010 nov.;5:30. DOI: https://doi.org/10.1186/1750-1172-5-30
Instituto Nacional de Salud (INS). Boletín Epidemiológico Semanal. Semana epidemiológica 07 14 al 20 de febrero de 2021. 2021. Disponible en: https://www.ins.gov.co/buscador-eventos/BoletinEpidemiologico/2021_Boletin_epidemiologico_semana_7.pdf
Congreso de Colombia. Ley 1438 de 2011 [Internet]. 2011. Disponible en: https://colaboracion.dnp.gov.co/CDT/Normatividad/ley1438de2011.pdf
Ministerio de Salud y Protección Social de Colombia (MinSalud). Colombia asume el reto de la atención integral para enfermedades huérfanas [Internet]. 2021. Disponible en: https://www.minsalud.gov.co/Paginas/Colombia-asume-el-reto-de-la-atencion-integral-para-enfermedades-huerfanas.aspx
Sanabria AJ, Rigau D, Rotaeche R, Selva A, Marzo-Castillejo M, Alonso-Coello P. Sistema GRADE: metodología para la realización de recomendaciones para la práctica clínica. Atención Primaria. 2015;47(1):48-55. DOI: https://doi.org/10.1016/j.aprim.2013.12.013
Parini R, Pintos-Morell G, Hennermann JB, Hsu TR, Karabul N, Kalampoki V, et al. Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of Age. Drug Des Devel Ther. 2020;14:2149-58. DOI: https://doi.org/10.2147/DDDT.S249433
Passaglia B, Demarchi R, Kirsztajn GM. Fabry disease: genetics, pathology, and treatment. Rev Assoc Med Bras. 2020 en.;66(supl. 1):s10-6. DOI: https://doi.org/10.1590/1806-9282.66.s1.10
Jaurretche S, Antongiovanni N, Perretta F. Fabry nephropathy. Role of nephrologist and clinical variables associated with the diagnosis. Nefrología. 2019;39(3):294-300. DOI: https://doi.org/10.1016/j.nefro.2018.10.017
Sasa H, Nagao M, Kino K. Safety and effectiveness of enzyme replacement therapy with agalsidase alfa in patients with Fabry disease: Post-marketing surveillance in Japan. Mol Genet Metab. 2019 abr.;126(4):448-59. DOI: https://doi.org/10.1016/j.ymgme.2019.02.005
Braga MC, Fonseca FL, Marins MM, Gomes CP, Bacci MR, Martins AM, et al. Evaluation of Beta 2-Microglobulin, Cystatin C, and Lipocalin-2 as Renal Biomarkers for Patients with Fabry Disease. Nephron. 2019;143(4):217-27. DOI: https://doi.org/10.1159/000500570
Lenders M, Neußer LP, Rudnicki M, Nordbeck P, Canaan-Kühl S, Nowak A, et al. Dose-Dependent Effect of Enzyme Replacement Therapy on Neutralizing Antidrug Antibody Titers and Clinical Outcome in Patients with Fabry Disease. J Am Soc Nephrol. 2018 dic.;29(12):2879-89. DOI: https://doi.org/10.1681/ASN.2018070740
Auray-Blais C, Lavoie P, Abaoui M, Côté AM, Boutin M, Akbari A, et al. High-risk screening for Fabry disease in a Canadian cohort of chronic kidney disease patients. Clin Chim Acta. 2020;501:234-40. DOI: https://doi.org/10.1016/j.cca.2019.10.045
Trimarchi H, Canzonieri R, Schiel A, Politei J, Costales-Collaguazo C, Stern A, et al. Expression of uPAR in Urinary Podocytes of Patients with Fabry Disease. Int J Nephrol. 2017;2017:1287289. DOI: https://doi.org/10.1155/2017/1287289
Rozenfeld PA, de Los Angeles-Bolla M, Quieto P, Pisani A, Feriozzi S, Neuman P, et al. Pathogenesis of Fabry nephropathy: The pathways leading to fibrosis. Mol Genet Metab. 2020 febr.;129(2):132-41. DOI: https://doi.org/10.1016/j.ymgme.2019.10.010
Zhang R, Chen Z, Lang Y, Shao S, Cai Y, You Q, et al. Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report. Ren Fail. 2020;42(1):958-65. DOI: https://doi.org/10.1080/0886022X.2020.1818578
Schiffmann R. Fabry disease. 1.a ed. Texas, Estados Unidos: Elsevier B.V.; 2015. DOI: http://dx.doi.org/10.1016/B978-0-444-62702-5.00017-2
Hopkin RJ, Cabrera G, Charrow J, Lemay R, Martins AM, Mauer M, et al. Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry. Mol Genet Metab. 2016 sept.;119(1-2):151-9. DOI: https://doi.org/10.1016/j.ymgme.2016.06.007
Yeniçerio?lu Y, Akdam H, Dursun B, Alp A, Eyiler FS, Ak?n D, et al. Screening Fabry’s disease in chronic kidney disease patients not on dialysis: A multicenter study. Ren Fail. 2017;39(1):104-11. DOI: https://doi.org/10.1080/0886022X.2016.1254656
Aguiar P, Azevedo O, Pinto R, Marino J, Baker R, Cardoso C, et al. New biomarkers defining a novel early stage of Fabry nephropathy: A diagnostic test study. Mol Genet Metab. 2017 jun.;121(2):162-9. DOI: https://doi.org/10.1016/j.ymgme.2017.05.007
?nan R, Me?e M, Bicik Z. Multidisciplinary approach to Fabry disease: from the eye of a neurologist. Acta Neurol Belg. 2020;120(6):1333-9. DOI: https://doi.org/10.1007/s13760-019-01138-y
Madsen CV, Granqvist H, Petersen JH, Rasmussen ÅK, Lund AM, Oturai P, et al. Age-related renal function decline in Fabry disease patients on enzyme replacement therapy: a longitudinal cohort study. Nephrol Dial Transplant. 2019 sept.;34(9):1525-33. DOI: https://doi.org/10.1093/ndt/gfy357
Jaurretche SP, Antongiovanni N, Perretta F. Direct correlation between age at diagnosis and severity of nephropathy in fabry disease patients. Indian J Nephrol. 2010;8719(2006):398-401. DOI: https://doi.org/10.4103/ijn.IJN_167_18
Lepedda AJ, Fancellu L, Zinellu E, De Muro P, Nieddu G, Deiana GA, et al. Urine bikunin as a marker of renal impairment in Fabry’s disease. Biomed Res Int. 2013;2013. DOI: https://doi.org/10.1155/2013/205948
Rozenfeld P, Feriozzi S. Contribution of inflammatory pathways to Fabry disease pathogenesis. Mol Genet Metab. 2017 nov.;122(3):19-27. DOI: https://doi.org/10.1016/j.ymgme.2017.09.004
Ortiz A, Abiose A, Bichet DG, Cabrera G, Charrow J, Germain DP, et al. Time to treatment benefit for adult patients with Fabry disease receiving agalsidase ?: data from the Fabry Registry. J Med Genet. 2016 jul.;53(7):495-502. DOI: https://doi.org/10.1136/jmedgenet-2015-103486
Riccio E, Sabbatini M, Bruzzese D, Annicchiarico-Petruzzelli L, Pellegrino A, Spinelli L, et al. Glomerular Hyperfiltration: An Early Marker of Nephropathy in Fabry Disease. Nephron. 2019;141(1):10-7. DOI: https://doi.org/10.1159/000493469
Fall B, Scott CR, Mauer M, Shankland S, Pippin J, Jefferson JA, et al. Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy. PLoS One. 2016;11(12):e0168346. DOI: https://doi.org/10.1371/journal.pone.0168346
Becherucci F, Romagnani P. When foots come first: Early signs of podocyte injury in fabry nephropathy without proteinuria. Nephron. 2015;129(1):3-5. DOI: https://doi.org/10.1159/000369307
Skrunes R, Svarstad E, Kampevold-Larsen K, Leh S, Tøndel C. Reaccumulation of globotriaosylceramide in podocytes after agalsidase dose reduction in young Fabry patients. Nephrol Dial Trans. 2017 my.;32(5):807-13. DOI: https://doi.org/10.1093/ndt/gfw094
Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, et al. European expert consensus statement on therapeutic goals in Fabry disease. Mol Genet Metab. 2018 jul.;124(3):189-203. DOI: https://doi.org/10.1016/j.ymgme.2018.06.004
Vujkovac B. Fabry disease: diagnostic methods in nephrology practice. Clin Nephrol. 2017;88(13):44-7. DOI: https://doi.org/10.5414/CNP88FX28
Kaminsky P, Noel E, Jaussaud R, Leguy-Seguin V, Hachulla E, Zenone T, et al. Multidimensional analysis of clinical symptoms in patients with Fabry’s disease. Int J Clin Pract. 2013;67(2):120-7. DOI: https://doi.org/10.1111/ijcp.12016
Martins AM, D’Almeida V, Kyosen SO, Takata ET, Delgado AG, Gonçalves AM, et al. Guidelines to diagnosis and monitoring of Fabry disease and review of treatment experiences. J Pediatr. 2009 oct.;155(supl. 4):S19-31. DOI: https://doi.org/10.1016/j.jpeds.2009.07.003
Politei J, Aiziczon D, Aguilar MA, Alonso S, Amoreo O, Andrade LA, et al. Recomendaciones para el diagnóstico, tratamiento y seguimiento de la enfermedad de Fabry en Argentina. Rev Nefrol Argent. 2018;16(2):1-29. Disponible en: http://www.nefrohospbritanico.org.ar/pdfs/FABRY-RECOMENDACIONES2018.pdf
Trimarchi H, Forrester M, Lombi F, Pomeranz V, Raña MS, Karl A, et al. Amiloride as an Alternate Adjuvant Antiproteinuric Agent in Fabry Disease: The Potential Roles of Plasmin and uPAR. Case Rep Nephrol. 2014;2014:854521. DOI: https://doi.org/10.1155/2014/854521
Valbuena C, Carvalho E, Bustorff M, Ganhão M, Relvas S, Nogueira R, et al. Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy. Virchows Arch. 2008;453(4):329-38. DOI: https://doi.org/10.1007/s00428-008-0653-2
Waldek S, Feriozzi S. Fabry nephropathy: a review - how can we optimize the management of Fabry nephropathy? BMC Nephrol. 2014 my.;15:72. DOI: https://doi.org/10.1186/1471-2369-15-72
Barbey F, Lidove O, Schwarting A. Fabry nephropathy: 5 years of enzyme replacement therapy-a short review. NDT plus. 2008;1:11-9. DOI: https://doi.org/10.1093/ndtplus/sfm022
Ries M, Bove-Bettis KE, Choyke P, Kopp JB, Austin HA, Brady RO, et al. Parapelvic kidney cysts: A distinguishing feature with high prevalence in Fabry disease. Kidney Int. 2004;66(3):978-82. DOI: https://doi.org/10.1111/j.1523-1755.2004.00846.x
Orphannet. The portal for rare diseases and orphan drugs [Internet]. Fabry disease. 2021. Disponible en: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=324&lng=EN
Turkmen K, Guclu A, Sahin G, Kocyigit I, Demirtas L, Erdur FM, et al. The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study. Kidney Blood Press Res. 2016;41(6):1016-24. DOI: https://doi.org/10.1159/000452605
Battaglia Y, Fiorini F, Azzini C, Esposito P, De Vito A, Granata A, et al. Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis. Front Med. 2021;8:640876. DOI: https://doi.org/10.3389/fmed.2021.640876
Beirão I, Cabrita A, Torres M, Silva F, Aguiar P, Laranjeira F, et al. Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now. Dis. 2017 jun.;5(2):15. DOI: https://doi.org/10.3390/diseases5020015
Sirrs S, Bichet D, Iwanochko M, Khan A, Moore D, West M. Canadian Fabry Disease Treatment Guidelines 2018. 2019. Disponible en: https://garrod.ca/wp-content/uploads/2020/02/Canadian-Fabry-Treatment-Guidelines-2019-final.pdf
Langeveld M, Hollak CE, Veen S, Eskes E. Protocol Diagnosis, evaluation and treatment of Fabry disease in the Netherlands. Amsterdam: UMC; 2020.
Gal A, Hughes DA, Winchester B. Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group. J Inherit Metab Dis. 2011 abr.;34(2):509-14. DOI: https://doi.org/10.1007/s10545-010-9261-9
Sánchez-Niño MD, Perez-Gomez MV, Valiño-Rivas L, Torra R, Ortiz A. Podocyturia: why it may have added value in rare diseases. Clin Kidney J. 2019 febr.;12(1):49-52. DOI: https://doi.org/10.1093/ckj/sfy081
Warnock DG, Daina E, Remuzzi G, West M. Enzyme replacement therapy and Fabry nephropathy. Clin J Am Soc Nephrol. 2010 febr.;5(2):371-8. DOI: https://doi.org/10.2215/CJN.06900909
Mauer M, Glynn E, Svarstad E, Tøndel C, Gubler MC, West M, et al. Mosaicism of podocyte involvement is related to podocyte injury in females with Fabry disease. PLoS One. 2014;9(11):e112188. DOI: https://doi.org/10.1371/journal.pone.0112188
Pereira EM, Silva AS, Labilloy A, Monte-Neto JT, Monte SJ. Podocyturia in Fabry disease. J Bras Nefrol. 2016;38(1):49-53. DOI: https://doi.org/10.5935/0101-2800.20160008
Smid BE, van der Tol L, Cecchi F, Elliott PM, Hughes DA, Linthorst GE, et al. Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance. Int J Cardiol. 2014 dic.;177(2):400-8. DOI: https://doi.org/10.1016/j.ijcard.2014.09.001
Costa RM, Martul EV, Reboredo JM, Cigarrán S. Curvilinear bodies in hydroxychloroquine-induced renal phospholipidosis resembling Fabry disease. Clin Kidney J. 2013 oct.;6(5):533-6. DOI: https://doi.org/10.1093/ckj/sft089
Weidemann F, Niemann M, Störk S, Breunig F, Beer M, Sommer C, et al. Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications. J Intern Med. 2013 oct.;274(4):331-41. DOI: https://doi.org/10.1111/joim.12077
Mignani R, Pieroni M, Pisani A, Spada M, Battaglia Y, Verrecchia E, et al. New insights from the application of the FAbry STabilization indEX in a large population of Fabry cases. Clin Kidney J. 2019 febr. 1;12(1):65-70. DOI: https://doi.org/10.1093/ckj/sfy108
Iwafuchi Y, Maruyama H, Morioka T, Noda S, Nagata H, Oyama Y, et al. Enzyme replacement therapy in a patient of heterozygous Fabry disease: clinical and pathological evaluations by repeat kidney biopsy and a successful pregnancy. CEN Case Rep. 2017;6(2):210-4. DOI: http://dx.doi.org/10.1007/s13730-017-0277-y
Riccio E, Zanfardino M, Ferreri L, Santoro C, Cocozza S, Capuano I, et al. Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data. Eur J Hum Genet. 2020 jul.;1662-8. DOI: https://doi.org/10.1038/s41431-020-0677-x
Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, et al. Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat. N Engl J Med. 2016;375(6):545-55. DOI: https://doi.org/10.1056/NEJMoa1510198
Müntze J, Gensler D, Maniuc O, Liu D, Cairns T, Oder D, et al. Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year. Clin Pharmacol Ther. 2019 my.;105(5):1224-33. DOI: https://doi.org/10.1002/cpt.1321
Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, et al. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study. J Med Genet. 2017 abr.;54(4):288-96.
El Dib R, Gomaa H, Carvalho RP, Camargo SE, Bazan R, Barretti P, et al. Enzyme replacement therapy for Anderson-Fabry disease. Cochrane Database Syst Rev. 2016;2016(7). DOI: https://doi.org/10.1002/14651858.CD006663.pub4
Sirrs SM, Bichet DG, Casey R, Clarke JT, Lemoine K, Doucette S, et al. Outcomes of patients treated through the Canadian Fabry disease initiative. Mol Genet Metab. 2014 abr.;111(4):499-506. DOI: https://doi.org/10.1016/j.ymgme.2014.01.014
Arends M, Biegstraaten M, Wanner C, Sirrs S, Mehta A, Elliott PM, et al. Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study. J Med Genet. 2018 my.;55(5):351-8. DOI: https://doi.org/10.1136/jmedgenet-2017-104863
Najafian B, Tøndel C, Svarstad E, Sokolovkiy A, Smith K, Mauer M. One Year of Enzyme Replacement Therapy Reduces Globotriaosylceramide Inclusions in Podocytes in Male Adult Patients with Fabry Disease. PLoS One. 2016;11(4):e0152812. DOI: https://doi.org/10.1371/journal.pone.0152812
Skrunes R, Tøndel C, Leh S, Larsen KK, Houge G, Davidsen ES, et al. Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease. Clin J Am Soc Nephrol. 2017 sept.;12(9):1470-9. DOI: https://doi.org/10.2215/CJN.01820217
Najafian B, Tøndel C, Svarstad E, Gubler MC, Oliveira JP, Mauer M. Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss. J Am Soc Nephrol. 2020 abr.;31(4):865-75. DOI: https://doi.org/10.1681/ASN.2019050497
Lenders M, Canaan-Kühl S, Krämer J, Duning T, Reiermann S, Sommer C, et al. Patients with Fabry Disease after Enzyme Replacement Therapy Dose Reduction and Switch-2-Year Follow-Up. J Am Soc Nephrol. 2016 mzo.;27(3):952-62. DOI: https://doi.org/10.1681/ASN.2015030337
Lenders M, Nordbeck P, Canaan-Kühl S, Kreul L, Duning T, Lorenz L, et al. Treatment switch in Fabry disease- a matter of dose? J Med Genet. 2021;58:342-50. DOI: https://doi.org/10.1136/jmedgenet-2020-106874
Lenders M, Brand E. Effects of Enzyme Replacement Therapy and Antidrug Antibodies in Patients with Fabry Disease. J Am Soc Nephrol. 2018 sept.;29(9):2265-78. DOI: https://doi.org/10.1681/ASN.2018030329
Krämer J, Lenders M, Canaan-Kühl S, Nordbeck P, Üçeyler N, Blaschke D, et al. Fabry disease under enzyme replacement therapy-new insights in efficacy of different dosages. Nephrol Dial Trans. 2018 ag.;33(8):1362-72. DOI: https://doi.org/10.1093/ndt/gfx319
Ripeau D, Amartino H, Cedrolla M, Urtiaga L, Urdaneta B, Cano M, et al. Switch from agalsidase beta to agalsidase alfa in the enzyme replacement therapy of patients with fabry disease in latin America. Med. 2017;77(3):173-9.
Lin HY, Huang YH, Liao HC, Liu HC, Hsu TR, Shen CI, et al. Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa. J Chin Med Assoc. 2014 abr.;77(4):190-7. DOI: https://doi.org/10.1016/j.jcma.2013.11.006
Tsuboi K, Yamamoto H. Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal). Genet Med. 2012 sept.;14(9):779-86. DOI: https://doi.org/10.1038/gim.2012.39
Bichet DG, Aerts JM, Auray-Blais C, Maruyama H, Mehta AB, Skuban N, et al. Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease. Genet Med. 2021;23(1):192-201. DOI: https://doi.org/10.1038/s41436-020-00968-z
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.