Microangiopatía trombótica sistémica asociado a mutaciones del complemento en trasplante renal donante vivo. Reporte de caso
Palabras clave:
microangiopatía trombótica; MAT; síndrome urémico hemolítico atípico; SUHa; trasplante renal; trombomodulina; enfermedad renal crónica
Resumen
El síndrome urémico hemolítico (SUH) se caracteriza por la presencia de anemia hemolítica, plaquetopenia e insuficiencia renal aguda. Si bien se distingue clásicamente en típico o infeccioso y atípico, es menester reconocer situaciones clínicas en las que se pone de manifiesto, como por ejemplo, embarazo, puerperio inmediato, tumores, trasplante, drogas, etc., condiciones clínicas que han sido denominadas amplificadoras del complemento.
La recurrencia postrasplante del síndrome urémico hemolítico atípico (SUHa) ha sido descrita en porcentajes variables en pacientes con mutaciones del factor H, factor B, factor I y C3, y gen de la trombomodulina, en reportes de casos aislados. Se presenta el caso de una paciente con enfermedad renal crónica (ERC) secundaria a agenesia renal, receptora preemptive de un riñón de donante vivo relacionado que presentó disfunción del injerto renal secundaria a microangiopatía trombótica, asociado a complicación neurológica, hemorragias, disfunción orgánica múltiple y óbito. Se describen los hallazgos del estudio genético y anatomopatológico de necropsia.
Citas
1) Brocklebank V, Wood KM, Kavanagh D. Thrombotic microangiopathy and the kidney. Clin J Am Soc Nephrol. 2018;13(2):300-17. doi: 10.2215/CJN.00620117.
2) Franchini M. Atypical hemolytic uremic syndrome: from diagnosis to treatment. Clin Chem Lab Med. 2015;53(11):1679-88. doi: 10.1515/cclm-2015-0024.
3) Laurence J, Haller H, Mannucci PM, Nangaku M, Praga M, Rodriguez de Cordoba S. Atypical hemolytic uremic syndrome (aHUS): essential aspects of an accurate diagnosis. Clin Adv Hematol Oncol. 2016;Suppl 11(11):2-15.
4) Campistol JM, Arias M, Ariceta G, Blasco M, Espinosa L, Espinosa M, et al. An update for atypical haemolytic uraemic syndrome: diagnosis and treatment. A consensus document. Nefrología. 2015;35(5):421-47. doi: 10.1016/j.nefro.2015.07.005.
5) Noris M, Caprioli J, Bresin E, Mossali C, Pianetti G, Gamba S, et al. Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype. Clin J Am Soc Nephrol. 2010;5(10):1844-59. doi: 10.2215/CJN.02210310.
6) Caprioli J, Bettinaglio P, Zipfel PF, Amadei B, Daina E, Gamba S, et al. The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20. J Am Soc Nephrol. 2001;12(2):297-307.
7) Sánchez-Corral P, Pérez-Caballero D, Huarte O, Simckes AM, Goicoechea E, López-Trascasa M, et al. Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome. Am J Hum Genet. 2002;71(6):1285-95. doi: 10.1086/344515.
8) Zuber J, Le Quintrec M, Sberro-Soussan R, Loirat C, Frémeaux-Bacchi V, Legendre C. New insights into postrenal transplant hemolytic uremic syndrome. Nat Rev Nephrol. 2011;7(1):23-35. doi: 10.1038/nrneph.2010.155.
9) Rodríguez de Córdoba S, Hidalgo MS, Pinto S, Tortajada A. Genetics of atypical hemolytic uremic syndrome (aHUS). Semin Thromb Hemost. 2014;40(4):422-30. doi: 10.1055/s-0034-1375296.
10) Skerka C, Józsi M, Zipfel PF, Dragon-Durey MA, Fremeaux-Bacchi V. Autoantibodies in haemolytic uraemic syndrome (HUS). Thromb Haemost. 2009;101(2):227-32.
11) Loirat C, Frémeaux-Bacchi V. Atypical hemolytic uremic syndrome. Orphanet J Rare Dis. 2011;6:60. doi: 10.1186/1750-1172-6-60.
12) Rodríguez de Córdoba S, Esparza-Gordillo J, Goicoechea de Jorge E, Lopez-Trascasa M, Sánchez-Corral P. The human complement factor H: functional roles, genetic variations and disease associations. Mol Immunol. 2004;41(4):355-67. doi:10.1016/j.molimm.2004.02.005.
13) Richards A, Buddles MR, Donne RL, Kaplan BS, Kirk E, Venning MC, et al. Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition. Am J Hum Genet. 2001;68(2):485-90. doi: 10.1086/318203.
14) Fakhouri F, Zuber J, Frémeaux-Bacchi V, Loirat C. Haemolytic uraemic syndrome. Lancet. 2017;390(10095):681-96. doi: 10.1016/S0140-6736(17)30062-4.
15) Fremeaux-Bacchi V, Kemp EJ, Goodship JA, Dragon-Durey MA, Strain L, Loirat C, et al. The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts. J Med Genet. 2005;42(11):852-6. doi: 10.1136/jmg.2005.030783.
16) Le Quintrec M, Lionet A, Kamar N, Karras A, Barbier S, Buchler M, et al. Complement mutation-associated de novo thrombotic microangiopathy following kidney transplantation. Am J Transplant. 2008;8(8):1694-701. doi: 10.1111/j.1600-6143.2008.02297.x.
17) Loirat C, Fremeaux-Bacchi V. Hemolytic uremic syndrome recurrence after renal transplantation. Pediatr Transplant. 2008;12(6):619-29. doi: 10.1111/j.1399-3046.2008.00910.x.
18) Delvaeye M, Noris M, De Vriese A, Esmon CT, Esmon NL, Ferrell G, et al. Thrombomodulin mutations in atypical hemolytic-uremic syndrome. N Engl J Med. 2009;361(4):345-57. doi: 10.1056/NEJMoa0810739.
19) Le Clech A, Simon-Tillaux N, Provôt F, Delmas Y, Vieira-Martins P, Limou S, et al. Atypical and secondary hemolytic uremic syndromes have a distinct presentation and no common genetic risk factors. Kidney Int. 2019;95(6):1443-52. doi: 10.1016/j.kint.2019.01.023.
2) Franchini M. Atypical hemolytic uremic syndrome: from diagnosis to treatment. Clin Chem Lab Med. 2015;53(11):1679-88. doi: 10.1515/cclm-2015-0024.
3) Laurence J, Haller H, Mannucci PM, Nangaku M, Praga M, Rodriguez de Cordoba S. Atypical hemolytic uremic syndrome (aHUS): essential aspects of an accurate diagnosis. Clin Adv Hematol Oncol. 2016;Suppl 11(11):2-15.
4) Campistol JM, Arias M, Ariceta G, Blasco M, Espinosa L, Espinosa M, et al. An update for atypical haemolytic uraemic syndrome: diagnosis and treatment. A consensus document. Nefrología. 2015;35(5):421-47. doi: 10.1016/j.nefro.2015.07.005.
5) Noris M, Caprioli J, Bresin E, Mossali C, Pianetti G, Gamba S, et al. Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype. Clin J Am Soc Nephrol. 2010;5(10):1844-59. doi: 10.2215/CJN.02210310.
6) Caprioli J, Bettinaglio P, Zipfel PF, Amadei B, Daina E, Gamba S, et al. The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20. J Am Soc Nephrol. 2001;12(2):297-307.
7) Sánchez-Corral P, Pérez-Caballero D, Huarte O, Simckes AM, Goicoechea E, López-Trascasa M, et al. Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome. Am J Hum Genet. 2002;71(6):1285-95. doi: 10.1086/344515.
8) Zuber J, Le Quintrec M, Sberro-Soussan R, Loirat C, Frémeaux-Bacchi V, Legendre C. New insights into postrenal transplant hemolytic uremic syndrome. Nat Rev Nephrol. 2011;7(1):23-35. doi: 10.1038/nrneph.2010.155.
9) Rodríguez de Córdoba S, Hidalgo MS, Pinto S, Tortajada A. Genetics of atypical hemolytic uremic syndrome (aHUS). Semin Thromb Hemost. 2014;40(4):422-30. doi: 10.1055/s-0034-1375296.
10) Skerka C, Józsi M, Zipfel PF, Dragon-Durey MA, Fremeaux-Bacchi V. Autoantibodies in haemolytic uraemic syndrome (HUS). Thromb Haemost. 2009;101(2):227-32.
11) Loirat C, Frémeaux-Bacchi V. Atypical hemolytic uremic syndrome. Orphanet J Rare Dis. 2011;6:60. doi: 10.1186/1750-1172-6-60.
12) Rodríguez de Córdoba S, Esparza-Gordillo J, Goicoechea de Jorge E, Lopez-Trascasa M, Sánchez-Corral P. The human complement factor H: functional roles, genetic variations and disease associations. Mol Immunol. 2004;41(4):355-67. doi:10.1016/j.molimm.2004.02.005.
13) Richards A, Buddles MR, Donne RL, Kaplan BS, Kirk E, Venning MC, et al. Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition. Am J Hum Genet. 2001;68(2):485-90. doi: 10.1086/318203.
14) Fakhouri F, Zuber J, Frémeaux-Bacchi V, Loirat C. Haemolytic uraemic syndrome. Lancet. 2017;390(10095):681-96. doi: 10.1016/S0140-6736(17)30062-4.
15) Fremeaux-Bacchi V, Kemp EJ, Goodship JA, Dragon-Durey MA, Strain L, Loirat C, et al. The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts. J Med Genet. 2005;42(11):852-6. doi: 10.1136/jmg.2005.030783.
16) Le Quintrec M, Lionet A, Kamar N, Karras A, Barbier S, Buchler M, et al. Complement mutation-associated de novo thrombotic microangiopathy following kidney transplantation. Am J Transplant. 2008;8(8):1694-701. doi: 10.1111/j.1600-6143.2008.02297.x.
17) Loirat C, Fremeaux-Bacchi V. Hemolytic uremic syndrome recurrence after renal transplantation. Pediatr Transplant. 2008;12(6):619-29. doi: 10.1111/j.1399-3046.2008.00910.x.
18) Delvaeye M, Noris M, De Vriese A, Esmon CT, Esmon NL, Ferrell G, et al. Thrombomodulin mutations in atypical hemolytic-uremic syndrome. N Engl J Med. 2009;361(4):345-57. doi: 10.1056/NEJMoa0810739.
19) Le Clech A, Simon-Tillaux N, Provôt F, Delmas Y, Vieira-Martins P, Limou S, et al. Atypical and secondary hemolytic uremic syndromes have a distinct presentation and no common genetic risk factors. Kidney Int. 2019;95(6):1443-52. doi: 10.1016/j.kint.2019.01.023.
Publicado
2020-09-14
Cómo citar
1.
Gutiérrez R, Fortunato RM, Vigliano C, Espinoza Álvaro, Nava A, De Francesco J, Raffaele PM. Microangiopatía trombótica sistémica asociado a mutaciones del complemento en trasplante renal donante vivo. Reporte de caso. Rev Nefrol Dial Traspl. [Internet]. 14 de septiembre de 2020 [citado 18 de abril de 2024];40(2):139-45. Disponible en: http://www.revistarenal.org.ar/index.php/rndt/article/view/523
Sección
Casuística
Derechos de autor 2020 Revista de Nefrología, Diálisis y Trasplante
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