Fabry disease in the optics of the nephrologist

Versions

PDF (Español (España))
Texto (Español (España))

Keywords

Enfermedad de Fabry
Proteinuria
Enfermedad renal
Esfingolipidosis Fabry Disease
Proteinuria
Kidney Disease
Sphingolipidoses

How to Cite

Mejia Cardona, A. F., Rivera Martínez , W. A. ., & López Garcés , J. G. (2022). Fabry disease in the optics of the nephrologist. Interdisciplinary Journal of Epidemiology and Public Health, 5(2), e–9880. https://doi.org/10.18041/2665-427X/ijeph.2.9880

Abstract

Fabry disease is an inherited disorder of progressive and multisystemic lysosomal deposition of glycosphingolipid catabolism, linked to the X chromosome, causing intracellular deposition of glycosphingolipids, especially globotriaosyl-ceramide (Gb-3), mainly at the level of the vascular endothelium, but also it can deposit you in other tissues. Its clinical and laboratory manifestations depend on the affected organ, mainly the kidney, heart, nervous system, gastrointestinal tract and skin, although it can involve any organ or system. Renal involvement is the first sign of target organ damage in most patients with the classic presentation, manifesting with progressive proteinuria and associated decreased renal function. The Fabry diagnosis can be delayed up to 10 years or more, from the clinical appearance of the disease and is carried out by measuring the activity of the enzyme alpha-galactosidase, mainly in men and requires a genetic study in women. Renal biopsy is a complementary diagnostic test, when the kidney is affected. Enzyme replacement therapy or the use of chaperones are the options for pharmacological management, they are chosen according to the patient's profile and the associated mutations.

https://doi.org/10.18041/2665-427X/ijeph.2.9880
PDF (Español (España))
Texto (Español (España))

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. 2021 Apr;14(4):1136–46.

Germain DP, Elliott PM, Falissard B, Fomin V V., 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.

Riccio E, Sabbatini M, Capuano I, Pisani A. Early Biomarkers of Fabry Nephropathy: A Review of the Literature. Nephron. 2019 Nov;143(4):274–81.

Sanchez-Niño MD, Sanz AB, Carrasco S, Saleem MA, Mathieson PW, Valdivielso JM, et al. Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy. Nephrol Dial Transplant. 2011 Jun;26(6):1797–802.

Branton MH, Schiffmann R, Sabnis SG, Murray GJ, Quirk JM, Altarescu G, et al. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore). 2002;81(2):122–38.

Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999 Jan;281(3):249–54.

Houge G, Skarbøvik AJ. [Fabry disease--a diagnostic and therapeutic challenge]. Tidsskr Nor Laegeforen. 2005 Apr;125(8):1004–6.

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.

Hwu WL, Chien YH, Lee NC, Chiang SC, Dobrovolny R, Huang AC, et al. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hum Mutat. 2009 Oct;30(10):1397–405.

Turkmen K, Baloglu I. Fabry disease: where are we now? Int Urol Nephrol 2020 5211. 2020 Jul;52(11):2113–22.

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. Nefrol Latinoam. 2017 Jan;14(1):27–38.

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 Apr;123(4):416–27.

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.

Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry’s disease. Ceramidetrihexosidase deficiency. N Engl J Med. 1967 May;276(21):1163–7.

Schiffmann R, Fuller M, Clarke LA, Aerts JMFG. Is it Fabry disease? Genet Med. 2016 Dec;18(12):1181–5.

Arends M, Wanner C, Hughes D, Mehta A, Oder D, Watkinson OT, et al. Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. J Am Soc Nephrol. 2017 May;28(5):1631–41.

MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet. 2001;38(11):750–60.

Alroy J, Sabnis S, Kopp JB. Renal Pathology in Fabry Disease. J Am Soc Nephrol. 2002 Jun;13(suppl 2):S134–8.

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.

Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003 Feb;138(4):338–46.

Cho ME, Kopp JB. Fabry disease in the era of enzyme replacement therapy: a renal perspective. Pediatr Nephrol. 2004 Jun;19(6):583–93.

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 Feb;67(2):120–7.

Martins AM, D’Almeida V, Kyosen SO, Takata ET, Delgado AG, Barbosa Ferreira Gonçalves ÂM, et al. Guidelines to diagnosis and monitoring of Fabry disease and review of treatment experiences. J Pediatr. 2009 Oct;155(4 Suppl).

Colpart P, Félix S. Fabry Nephropathy. Arch Pathol Lab Med. 2017 Aug;141(8):1127–31.

25. Politei J, Aiziczon D, Aguilar M, Alberton V, Alonso S, Amoreo O, et al. Recomendaciones para el diagnóstico, tratamiento y seguimiento de la enfermedad de Fabry en Argentina. Rev Nefrología Argentina. 2018; 16(2): 3-29.

İnan R, Meşe M, Bicik Z. Multidisciplinary approach to Fabry disease: from the eye of a neurologist. Acta Neurol Belg. 2020 Dec;120(6):1333–9.

Madsen C V., 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 Sep;34(9):1525–33.

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.

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.

Rozenfeld P, Feriozzi S. Contribution of inflammatory pathways to Fabry disease pathogenesis. Mol Genet Metab. 2017 Nov;122(3):19–27.

Becherucci F, Romagnani P. When foots come first: early signs of podocyte injury in Fabry nephropathy without proteinuria. Nephron. 2015 Jan;129(1):3–5.

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 Reports Nephrol. 2014;2014:1–6.

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.

Waldek S, Feriozzi S. Fabry nephropathy: A review - How can we optimize the management of Fabry nephropathy? BMC Nephrol. 2014 May;15(1):1–13.

Wanner C, Oliveira JP, Ortiz A, Mauer M, Germain DP, Linthorst GE, et al. Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry. Clin J Am Soc Nephrol. 2010 Dec;5(12):2220–8.

Warnock DG, Ortiz A, Mauer M, Linthorst GE, Oliveira JP, Serra AL, et al. Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant. 2012;27(3):1042–9.

Ortiz A, Cianciaruso B, Cizmarik M, Germain DP, Mignani R, Oliveira JP, et al. End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry. Nephrol Dial Transplant. 2010 Mar;25(3):769–75.

Nakao S, Kodama C, Takenaka T, Tanaka A, Yasumoto Y, Yoshida A, et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype. Kidney Int. 2003 Sep;64(3):801–7.

Kotanko P, Kramar R, Devrnja D, Paschke E, Voigtländer T, Auinger M, et al. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol. 2004 May;15(5):1323–9.

Linthorst GE, Hollak CEM, Korevaar JC, van Manen JG, Aerts JMFG, Boeschoten EW. alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease. Nephrol Dial Transplant. 2003 Aug;18(8):1581–4.

Tanaka M, Ohashi T, Kobayashi M, Eto Y, Miyamura N, Nishida K, et al. Identification of Fabry’s disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients. Clin Nephrol. 2005;64(4):281–7.

Linthorst GE, Bouwman MG, Wijburg FA, Aerts JMFG, Poorthuis BJHM, Hollak CEM. Screening for Fabry disease in high-risk populations: a systematic review. J Med Genet. 2010 Apr;47(4):217–22.

Maruyama H, Takata T, Tsubata Y, Tazawa R, Goto K, Tohyama J, et al. Screening of male dialysis patients for fabry disease by plasma globotriaosylsphingosine. Clin J Am Soc Nephrol. 2013 Apr;8(4):629–36.

Mallett A, Kearey PJ, Cameron A, Healy HG, Denaro C, Thomas M, et al. The prevalence of Fabry disease in a statewide chronic kidney disease cohort - Outcomes of the aCQuiRE (Ckd.Qld fabRy Epidemiology) study. BMC Nephrol. 2022 Dec;23(1).

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. Diseases. 2017 Jun;5(2):15.

Barros LR, Jiménez SJ, Roncallo A, López F, Conde JC, Martínez T, et al. Colombian consensus of experts on evidence -based recommendations for diagnosis, treatment and follow-up of fabry’s disease with renal involvement. Rev Colomb Nefrol. 2022 Feb;9(1):e591–e591.

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 Apr;34(2):509.

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 Mar;28(3):505–17.

Barbey F, Lidove O, Schwarting A. Fabry nephropathy: 5 years of enzyme replacement therapy—a short review. Clin Kidney J. 2008 Feb;1(1):11–9.

Sanchez-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 Feb;12(1):49.

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 Reports Nephrol. 2019;2019.

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 Feb;129(2):132–41.

Herrero Calvo JA. Nefropatía por enfermedad de Fabry. Nefrología. 2011 May;2(1):88–96.

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 Sep;119(1–2):151–9.

Warnock DG, Daina E, Remuzzi G, West M. Enzyme replacement therapy and Fabry nephropathy. Clin J Am Soc Nephrol. 2010;5(2):371–8.

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.

Langeveld M, Hollak CE, Klein Van Loon S, Van Der Veen S, El Sayed M, Eskes E. Protocol Diagnosis, evaluation and treatment of Fabry disease in the Netherlands.

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Copyright (c) 2022 Interdisciplinary Journal of Epidemiology and Public Health

Downloads

Download data is not yet available.