medigraphic.com
ISSN 0326-3428 (Impreso)
Órgano de difusión científica de la Asociación Nefrológica de Buenos Aires

2020, Número 1

<< Anterior Siguiente >>

Rev Nefrol Dial Traspl 2020; 40 (1)


Chaperonas farmacológicas. Nueva alternativa terapéutica para la nefropatía por enfermedad de fabry en Argentina

Jaurretche S

Idioma: Español
Referencias bibliográficas: 64
Paginas: 51-61
Archivo PDF: 175.66 Kb.


FRAGMENTO

ENFERMEDAD DE FABRY

Definición
La enfermedad de Fabry (EF, OMIM 301500) es una enfermedad por depósito lisosomal (EDL). Este grupo de enfermedades incluye al menos cincuenta entidades hereditarias de baja frecuencia, originadas por un error congénito del metabolismo, secundario a un defecto génico específico, que conduce a una deficiencia en la actividad de una o varias enzimas lisosomales. El déficit de actividad enzimática produce el acúmulo anormal de productos no metabolizados, primariamente en los lisosomas celulares.
La EF es una EDL causada por la actividad deficiente de la enzima α-galactosidasa-A (αGal-A, EC 3.2.1.22), lo que produce la acumulación de glicoesfingolípidos complejos, principalmente globotriaosilceramida (Gb3) (Galα1→4Galβ1→4Glcβ→Cer, Gb3) y sus metabolitos asociados en los lisosomas, en otros compartimientos celulares y en el plasma, de manera progresiva y multisistémica.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.

  2. Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M,Burlina A, et al. Fabry disease revisited: Managementand treatment recommendations for adult patients. MolGenet Metab. 2018;123(4):416-27.

  3. Perretta F, Antongiovanni N, Jaurretche S. Majororganic involvement in women with Fabry diseasein Argentina. ScientificWorldJournal. 2018; 2018:6515613.

  4. Matern D, Gavrilov D, Oglesbee D, RaymondK, Rinaldo P, Tortorelli S. Newborn screeningfor lysosomal storage disorders. Semin Perinatol.2015;39(3):206-16.

  5. Linthorst GE, Bouwman MG, Wijburg FA, Aerts JM,Poorthuis BJ, Hollak CE. Screening for Fabry diseasein high-risk populations: a systematic review. J MedGenet. 2010;47(4):217-22.

  6. Barba Romero MA. Estudio de la enfermedad deFabry en España y en Europa: afectación y análisis dela respuesta al tratamiento enzimático en las mujeres.Utilidad de un registro de enfermos [Tesis doctoral].Universidad Autónoma de Madrid: Facultad deMedicina, Departamento de Medicina, 2013.

  7. Jaurretche S. Mutación de novo en paciente adulto jovencon compromiso neurológico, cardiológico y renal. RevArgent Med. 2016;4(8):16-8.

  8. Barbey F, Brakch N, Linhart A, Jeanrenaud X, PalecekT, Bultas J, et al. Increased carotid intima-mediathickness in the absence of atherosclerotic plaques inan adult population with Fabry disease. Acta PaediatrSuppl. 2006;95(451):63-8.

  9. Aerts JM, Groener JE, Kuiper S, Donker-KoopmanWE, Strijland A, Ottenhoff R, et al. Elevatedglobotriaosylsphingosine is a hallmark of Fabry disease.Proc Natl Acad Sci U S A. 2008;105(8):2812-7.

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

  11. Tøndel C, Bostad L, Hirth A, Svarstad E. Renalbiopsy findings in children and adolescents with Fabrydisease and minimal albuminuria. Am J Kidney Dis.2008;51(5):767-76.

  12. Najafian B, Svarstad E, Bostad L, Gubler MC, TøndelC, Whitley C, et al. Progressive podocyte injury andglobotriaosylceramide (GL-3) accumulation in youngpatients with Fabry disease. Kidney Int. 2011;79(6):663-70.

  13. Tøndel C, Bostad L, Larsen KK, Hirth A, Vikse BE,Houge G, et al. Agalsidase benefits renal histology inyoung patients with Fabry disease. J Am Soc Nephrol.2013;24(1):137-48.

  14. Tøndel C, Kanai T, Larsen KK, Ito S, Politei JM,Warnock DG, et al. Foot process effacement is an earlymarker of nephropathy in young classic Fabry patientswithout albuminuria. Nephron. 2015;129(1):16-21.

  15. Perretta F, Antongiovanni N, Jaurretche S. Early renalinvolvement in agGirl with classic Fabry disease. CaseRep Nephrol. 2017;2017:9543079.

  16. Jaurretche S, Venera G, Antongiovanni N, PérezGR. Urinary excretion of microRNAs in young fabrydisease patients with mild or absent nephropathy. OpenJ Nephrol. 2018;8:71-83.

  17. Jaurretche S, Venera G, Antongiovanni N, Pérez GR.Urinary excretion profile of microRNAs related torenal fibrosis in Fabry disease patients. A pilot study.Meta Gene. 2019;19:212-8.

  18. Jaurretche S, Pérez G, Antongiovanni N, PerrettaF, Venera G. Variables associated with a urinaryMicroRNAs excretion profile indicative of renalfibrosis in Fabry disease patients. Int J Chronic Dis.2019;2019:4027606.

  19. Jaurretche S, Pérez GR, Venera G. High Lyso-Gb3plasma levels associated with decreased miR-29 andmiR-200 urinary excretion in young non-albuminuricmale patient with classic Fabry disease. Case RepNephrol. 2019;2019:4980942.

  20. Waldek S, Patel MR, Banikazemi M, Lemay R, LeeP. Life expectancy and cause of death in males andfemales with Fabry disease: findings from the FabryRegistry. Genet Med. 2009;11(11):790-6.

  21. Ortiz A, Oliveira JP, Waldek S, Warnock DG,Cianciaruso B, Wanner C; Fabry Registry. Nephropathyin males and females with Fabry disease: crosssectionaldescription of patients before treatment withenzyme replacement therapy. Nephrol Dial Transplant.2008;23(5):1600-7.

  22. Namdar M. Electrocardiographic changes andarrhythmia in Fabry disease. Front Cardiovasc Med.2016;3:7.

  23. Jaurretche S, Antogiovanni N, Perretta F. Prevalenceof chronic kidney disease in fabry disease patients:Multicenter cross sectional study in Argentina. MolGenet Metab Rep. 2017;12:41-3.

  24. Mehta A, Widmer U. Natural history of Fabrydisease. En: Mehta A, Beck M, Sunder-Plassmann G(eds.). Fabry Disease: Perspectives from 5 years of FOS[Internet]. Oxford: Oxford PharmaGenesis, 2006.Disponible en: https://www.ncbi.nlm.nih.gov/books/NBK11572/ (Consulta: 8/01/2020).

  25. Jaurretche S, Cabrera G. Evaluación pre trasplanterenal en el paciente con Enfermedad de Fabry. DiálTraspl. 2016;37(2): 9-17.

  26. Fogo AB, Bostad L, Svarstad E, Cook WJ, MollS, Barbey F, et al.; all members of the InternationalStudy Group of Fabry Nephropathy (ISGFN). Scoringsystem for renal pathology in Fabry disease: report ofthe International Study Group of Fabry Nephropathy(ISGFN). Nephrol Dial Transplant. 2010;25(7):2168-77.

  27. Rozenfeld P A, de los Angeles Bolla M, Quieto P,Pisani A, Feriozzi S, Neuman P, et al. Pathogenesis ofFabry nephropathy: the pathways leading to fibrosis.Mol Genet Metab. 2020;129(2):132-41.

  28. Becherucci F, Romagnani P. When foots come first:early signs of podocyte injury in Fabry nephropathywithout proteinuria. Nephron. 2015;129(1):3-5.

  29. Trimarchi H, Canzonieri R, Schiel A, Costales-Collaguazo C, Politei J, Stern A, et al. Increased urinaryCD80 excretion and podocyturia in Fabry disease. JTransl Med. 2016;14(1):289.

  30. Schiffmann R, Warnock DG, Banikazemi M, BultasJ, Linthorst GE, Packman S, et al. Fabry disease:progression of nephropathy, and prevalence of cardiacand cerebrovascular events before enzyme replacementtherapy. Nephrol Dial Transplant. 2009;24(7):2102-11.

  31. Jaurretche S, Antongiovanni N, Perretta F. Enfermedadvascular en pacientes varones con enfermedad de Fabryen hemodiálisis: estudio de cohorte retrospectivo enArgentina. Rev Nefrol Dial Traspl. 2019;39(2):101-7.

  32. Wanner C, Oliveira JP, Ortiz A, Mauer M, GermainDP, Linthorst GE, et al. Prognostic indicators ofrenal disease progression in adults with Fabry disease:natural history data from the Fabry Registry. Clin J AmSoc Nephrol. 2010;5(12):2220-8.

  33. Schiffmann R, Waldek S, Benigni A, Auray-Blais C.Biomarkers of Fabry disease nephropathy. Clin J AmSoc Nephrol. 2010;5(2):360-4.

  34. Jaurretche S, Antongiovanni N, Perretta F. Nefropatíapor enfermedad de Fabry. Rol del nefrólogo y variablesclínicas asociadas al diagnóstico. Nefrología (Madr.).2019;39(3):294-300.

  35. Weidemann F, Sánchez-Niño MD, Politei J, OliveiraJP, Wanner C, Warnock DG, et al. Fibrosis: a keyfeature of Fabry disease with potential therapeuticimplications. Orph J Rare Dis. 2013;8(1):116.

  36. Mauer M, Sokolovskiy A, Barth JA, Castelli JP,Williams HN, Benjamin ER, et al. Reduction ofpodocyte globotriaosylceramide content in adultmale patients with Fabry disease with amenable GLAmutations following 6 months of migalastat treatment.J Med Genet. 2017;54(11):781-6.

  37. Tøndel C, Ramaswami U, Aakre KM, Wijburg F,Bouwman M, Svarstad E. Monitoring renal function inchildren with Fabry disease: comparisons of measuredand creatinine-based estimated glomerular filtrationrate. Nephrol Dial Transplant. 2009;25(5):1507-13.

  38. Feriozzi S, Germain DP, Di RV, Legrand A, RicciR, Barbey, F. Cystatin C as a marker of early changesof renal function in Fabry nephropathy. J Nephrol.2007;20(4):437-43.

  39. Torralba-Cabeza MA, Olivera S, Hughes DA, PastoresGM, Mateo RN, Pérez-Calvo JI. Cystatin C andNT-proBNP as prognostic biomarkers in Fabry disease.Mol Genet Metab. 2011;104(3):301-7.

  40. Lepedda AJ, Fancellu L, Zinellu E, De Muro P,Nieddu G, Deiana GA, et al. Urine bikunin as a markerof renal impairment in Fabry’s disease. Biomed Res Int.2013;2013:205948.

  41. Aguiar P, Azevedo O, Pinto R, Marino J, Baker R,Cardoso C, et al. New biomarkers defining a novelearly stage of Fabry nephropathy: A diagnostic teststudy. Mol Genet Metab. 2017;121(2):162-9.

  42. Trimarchi H, Canzonieri R, Muryan A, Schiel A,Araoz A, Forrester M, et al. Copious podocyturiawithout proteinuria and with normal renal function ina young adult with Fabry disease. Case Rep Nephrol.2015;2015:257628.

  43. Trimarchi H, Canzonieri R, Schiel A, Politei J, SternA, Andrews J, et al. Podocyturia is significantly elevatedin untreated vs treated Fabry adult patients. J Nephrol.2016;29(6):791-7.

  44. Fall B, Scott CR, Mauer M, Shankland S, Pippin J,Jefferson JA, et al. Urinary podocyte loss is increasedin patients with Fabry disease and correlates withclinical severity of Fabry nephropathy. PloS One.2016;11(12):e0168346.

  45. McCafferty EH, Scott LJ. Migalastat: a review inFabry disease. Drugs. 2019;79(5):543-54.

  46. Tuttolomondo A, Simonetta I, Duro G, PecoraroR, Miceli S, Colomba P, et al. Inter-familial andintra-familial phenotypic variability in three Sicilianfamilies with Anderson–Fabry disease. OncoTarget.2017;8(37):61415-24.

  47. Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, et al. Oralpharmacological chaperone migalastat compared withenzyme replacement therapy in Fabry disease: 18-monthresults from the randomised phase III ATTRACTstudy. J Med Genet. 2017;54(4):288-96.

  48. Benjamin ER, Della Valle MC, Wu X, Katz E, PruthiF, Bond S, et al. The validation of pharmacogenetics forthe identification of Fabry patients to be treated withmigalastat. Genet Med. 2017;19(4):430-8.

  49. Germain DP, Hughes DA, Nicholls K, Bichet DG,Giugliani R, Wilcox WR, et al. Treatment of Fabry’sdisease with the pharmacologic chaperone migalastat.N Engl J Med. 2016;375(6):545-55.

  50. Wu X, Katz E, Della Valle MC, Mascioli K, FlanaganJJ, Castelli JP, et al. A pharmacogenetic approach toidentify mutant forms of alpha-galactosidase A thatrespond to a pharmacological chaperone for Fabrydisease. Hum Mutat. 2011;32(8):965-77.

  51. Jaurretche SP, Antongiovanni N, Perretta F. Directcorrelation between age at diagnosis and severity ofnephropathy in fabry disease patients. Indian J Nephrol.2019;29(6):398.

  52. Eng CM, Banikazemi M, Gordon RE, Goldman M,Phelps R, Kim L, et al. A phase 1/2 clinical trial ofenzyme replacement in Fabry disease: pharmacokinetic,substrate clearance, and safety studies. Am J HumGenet. 2001;68(3):711-22.

  53. Schiffmann R, Kopp JB, Austin HA III, SabnisS, Moore DF, Weibel T, et al. Enzyme replacementtherapy in Fabry disease: a randomized controlled trial.JAMA. 2001;285(21):2743-9.

  54. Ortiz A, Abiose A, Bichet DG, Cabrera G, Charrow J,Germain DP, et al. Time to treatment benefit for adultpatients with Fabry disease receiving agalsidase β: datafrom the Fabry Registry. J Med Genet. 2016;53(7):495-502.

  55. Germain DP, Waldek S, Banikazemi M, BushinskyDA, Charrow J, Desnick RJ, et al. Sustained, longtermrenal stabilization after 54 months of agalsidasebeta therapy in patients with Fabry disease. J Am SocNephrol. 2007;18(5):1547-57.

  56. Fan J-Q, Ishii S, Asano N, Suzuki Y. Acceleratedtransport and maturation of lysosomal α-galactosidaseA in Fabry lymphoblasts by an enzyme inhibitor. NatMed. 1999;5(1):112-5.

  57. Yam GH, Zuber C, Roth J. A synthetic chaperonecorrects the trafficking defect and disease phenotype ina protein misfolding disorder. Faseb J. 2005;19(1):12-8.

  58. Asano N, Ishii S, Kizu H, Ikeda K, Yasuda K, Kato A,et al. In vitro inhibition and intracellular enhancementof lysosomal alpha-galactosidase A activity in Fabrylymphoblasts by 1-deoxygalactonojirimycin and itsderivatives. Eur J Biochem. 2000;267(13):4179-86.

  59. Khanna R, Soska R, Lun Y, Feng J, Frascella M,Young B, et al. The pharmacological chaperone1-deoxygalactonojirimycin reduces tissueglobotriaosylceramide levels in a mouse model of Fabrydisease. Mol Ther. 2010;18(1):23-33.

  60. Ishii S, Chang H-H, Yoshioka H, Shimada T, MannenK, Higuchi Y, et al. Preclinical efficacy and safety of1-deoxygalactonojirimycin in mice for Fabry disease. JPharmacol Exp Ther. 2009;328(3):723-31.

  61. Young-Gqamana B, Brignol N, Chang HH, KhannaR, Soska R, Fuller M, et al. Migalastat HCl reducesglobotriaosylsphingosine (lyso-Gb3) in Fabrytransgenic mice and in the plasma of Fabry patients.PLoS One. 2013;8(3):e57631.

  62. Johnson FK, Mudd PN Jr, Bragat A, Adera M, BoudesP. Pharmacokinetics and safety of migalastat HCl andeffects on agalsidase activity in healthy volunteers. ClinPharmacol Drug Dev. 2013;2(2):120-32.

  63. Germain DP, Giugliani R, Hughes DA, MethaA, Nicholls K, Barisoni L, et al. Safety andpharmacodynamic effects of a pharmacologicalchaperone on alphagalactosidase A activity andglobotriaosylceramide clearance in Fabry disease:report from two phase 2 clinical studies. Orphanet JRare Dis. 2012;7(91):1-11.

  64. Giugliani R, Waldek S, Germain DP, Nicholls K,Bichet DG, Simosky JK, et al. A phase 2 study ofmigalastat hydrochloride in females with Fabry disease:selection of population, safety and pharmacodynamiceffects. Mol Genet Metab. 2013;109(1):86-92.




2020     |     www.medigraphic.com