Síndrome de Alport: una actualización en fisiopatología, genética, diagnóstico y tratamiento
Palabras clave:
Alport, membrana basal glomerular, hematuria microscópica, colágeno, proteinuria
Resumen
El síndrome de Alport es una enfermedad renal hereditaria de curso progresivo, que ocurre por defectos genéticos en los genes responsables de la constitución de la membrana basal glomerular. Las mutaciones patogénicas en los genes para el colágeno tipo IV (COL 4A3/4/5) producen una alteración en el arreglo correcto de la membrana basal a nivel glomerular. La presentación clínica puede variar dependiendo de la mutación que presente el paciente. Luego de confirmar el diagnóstico, con estudios genéticos o mediante biopsia, se hace necesaria la correlación genotipo-fenotipo para determinar pronóstico y tratamiento. La reducción de la proteinuria, según sugieren las guías de manejo, ha resultado en un retraso en la progresión a enfermedad renal crónica, mientras se concluyen los estudios con medicamentos innovadores dirigidos a receptores específicos.
Citas
1) Hudson BG. The molecular basis of Goodpasture and Alport syndromes: beacons for the discovery of the collagen IV family. J Am Soc Nephrol. 2004;15(10):2514-27. doi: 10.1097/01.ASN.0000141462.00630.76.
2) Tapia-Cerpa CE, Miyahira-Arakaki J. Síndrome de Alport autosómico recesivo. A propósito de un caso. Rev Med Hered. 2008;19(1):25-8.
3) Kruegel J, Rubel D, Gross O. Alport syndrome--insights from basic and clinical research. Nat Rev Nephrol. 2013;9(3):170-8. doi: 10.1038/nrneph.2012.259.
4) Heidet L, Gubler MC. Syndrome d’Alport : néphropathie héréditaire associée à des mutations dans les gènes codant les chaînes de collagène de type IV [Alport syndrome: Hereditary nephropathy associated with mutations in genes coding for type IV collagen chains]. Nephrol Ther. 2016;12(7):544-51. doi: 10.1016/j.nephro.2016.09.001.
5) Rubel D, Frese J, Martin M, Leibnitz A, Girgert R, Miosge N, et al. Collagen receptors integrin alpha2beta1 and discoidin domain receptor 1 regulate maturation of the glomerular basement membrane and loss of integrin alpha2beta1 delays kidney fibrosis in COL4A3 knockout mice. Matrix Biol. 2014; 34:13-21. doi: 10.1016/j.matbio.2014.01.006.
6) Cosgrove D, Liu S. Collagen IV diseases: A focus on the glomerular basement membrane in Alport syndrome. Matrix Biol. 2017;57-58:45-54. doi: 10.1016/j.matbio.2016.08.005.
7) Hudson BG, Tryggvason K, Sundaramoorthy M, Neilson EG. Alport's syndrome, Goodpasture's syndrome, and type IV collagen. N Engl J Med. 2003;348(25):2543-56. doi: 10.1056/NEJMra022296 .
8) Williams EW, Turner AN. Glomerular basement membrane disorders and the kidney. Medicine. 2015;43(9):526-8. doi: 10.1016/j.mpmed.2015.06.010.
9) Plevová P, Gut J, Janda J. Familial hematuria: a review. Medicina (Kaunas). 2017;53(1):1-10. doi: 10.1016/j.medici.2017.01.002.
10) Longo I, Porcedda P, Mari F, Giachino D, Meloni I, Deplano C, et al. COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome. Kidney Int. 2002;61(6):1947-56. doi: 10.1046/j.1523-1755.2002.00379.x.
11) Gross O, Netzer KO, Lambrecht R, Seibold S, Weber M. Novel COL4A4 splice defect and in-frame deletion in a large consanguine family as a genetic link between benign familial haematuria and autosomal Alport syndrome. Nephrol Dial Transplant. 2003;18(6):1122-7. doi: 10.1093/ndt/gfg157.
12) Kashtan CE. Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy. Curr Opin Pediatr. 2004;16(2):177-81. doi: 10.1097/00008480-200404000-00011.
13) Deltas C, Pierides A, Voskarides K. Molecular genetics of familial hematuric diseases. Nephrol Dial Transplant. 2013;28(12):2946-60. doi: 10.1093/ndt/gft253.
14) Savige J, Storey H, Il Cheong H, Kang HG, Park E, Hilbert P, et al. X-linked and autosomal recessive Alport syndrome: pathogenic variant features and further genotype-phenotype correlations. PLoS One. 2016;11(9):e0161802. doi: 10.1371/journal.pone.0161802.
15) Wang Y, Sivakumar V, Mohammad M, Colville D, Storey H, Flinter, et al. Clinical and genetic features in autosomal recessive and X-linked Alport syndrome. Pediatr Nephrol. 2014;29(3):391-6. doi: 10.1007/s00467-013-2643-0.
16) Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, et al. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study. J Am Soc Nephrol. 2003;14(10):2603-10. doi: 10.1097/01.asn.0000090034.71205.74.
17) Xu JM, Zhang SS, Zhang Q, Zhou YM, Zhu CH, Ge J, et al. Ocular manifestations of Alport syndrome. Int J Ophthalmol. 2010;3(2):149-51. doi: 10.3980/j.issn.2222-3959.2010.02.13.
18) McCarthy PA, Maino DM. Alport syndrome: a review. Clin Eye Vis Care. 2000;12(3-4):139-50. doi: 10.1016/S0953-4431(00)00042-4.
19) Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, et al. Expert consensus guidelines for the genetic diagnosis of Alport syndrome. Pediatr Nephrol. 2019;34(7):1175-89. doi: 10.1007/s00467-018-3985-4.
20) Kashtan CE. Alport Syndrome. En: Adam MP, Ardinger HH, Pagon RA, et al. GeneReviews® [Internet]. Seattle: University of Washington, 1993-2020. Disponible en: (consulta: 11/07/2019).
21) Praga M, Caravaca F, Yuste C, Cavero T, Hernández E, Morales E, et al. Nefropatía IgA: ¿qué pacientes están en riesgo de progresar a enfermedad renal terminal y cómo deberían ser tratados? Nefrología (Madr.). 2018;38(4):347-52. doi: 10.1016/j.nefro.2018.01.001.
22) Alport Syndrome Rare Disease Group. Alport Syndrome: clinician information [Internet]. En: RareRenal Information on Rare Kidney Disease.
Disponible en: (consulta: 01/01/2020).
23) Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F. Expert guidelines or the management of Alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol. 2013;24(3):364-75. doi: 10.1681/ASN.2012020148.
24) Heidet L, Gubler MC. The renal lesions of Alport syndrome. J Am Soc Nephrol. 2009;20(6):1210-5. doi: 10.1681/ASN.2008090984.
25) Fogo AB, Lusco MA, Najafian B, Alpers CE. AJKD Atlas of Renal Pathology: Alport Syndrome. Am J Kidney Dis. 2016;68(4):e15-e16. doi: 10.1053/j.ajkd.2016.08.002.
26) van der Loop FT, Monnens LA, Schröder CH, Lemmink HH, Breuning MH, Timmer ED, et al. Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin. Kidney Int. 1999;55(4):1217-24. doi: 10.1046/j.1523-1755.1999.00357.x.
27) Praga M, Torra R, Tazón B. Hematuria familiar benigna. Nefrología (Madr.). 2003;23(Suppl. 1):40-5.
28) Singh N, Nainani N, Arora P, Venuto RC. CKD in MYH9-related disorders. Am J Kidney Dis. 2009;54(4):732-40. doi: 10.1053/j.ajkd.2009.06.023.
29) Simckes A, Blowey D, Gyves K, Alon US. Success and safety of same-day kidney biopsy in children and adolescents. Pediatr Nephrol. 2000;14(10-11):946-52. doi: 10.1007/s004670000316.
30) Miglinas M. Utility of renal biopsy in the clinical management of renal disease: hematuria should not be missed. Kidney Int. 2014;86(6):1269. doi: 10.1038/ki.2014.277.
31) Liderman S. Registro Argentino de Biopsias Renales. Reporte de situación en Capital Federal y Gran Buenos Aires a abril del 2008. Rev Nefrol Dial Traspl. 2008;28(2):55-60.
32) Orta N, Sanna V, Moriyón JC, de Orta S, Domínguez L, Zibaoui P, et al. Hematuria en niños: análisis de la casuística en un centro de referencia nacional. Valencia, Venezuela. Rev Chil Pediatr. 2001;72(2):92-9. doi: 10.4067/S0370-41062001000200003.
33) Kashtan CE, Ding J, Gregory M, Gross O, Heidet L, Knebelmann B, et al. Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative. Pediatr Nephrol. 2013;28(1):5-11. doi: 10.1007/s00467-012-2138-4.
34) Cravedi P, Remuzzi G. Pathophysiology of proteinuria and its value as an outcome measure in chronic kidney disease. Br J Clin Pharmacol. 2013;76(4):516-23. doi: 10.1111/bcp.12104.
35) Gross O, Beirowski B, Koepke ML, Kuck J, Reiner M, Addicks K, et al. Preemptive ramipril therapy delays renal failure and reduces renal fibrosis in COL4A3-knockout mice with Alport syndrome. Kidney Int. 2003;63(2):438-46. doi: 10.1046/j.1523-1755.2003.00779.x.
36) de Lucas Collantes C, Izquierdo García E. Proteinuria. En: Protocolos diganósticos y terapéuticos en nefrología pediátrica [Internet]. 3a ed. Madrid: Asociación Española de Pediatría, 2014, pp. 69-79. (Serie Protocolos de la AEP). Disponible en: (consulta: 01/01/2020).
37) Proesmans W, Van Dyck M. Enalapril in children with Alport syndrome. Pediatr Nephrol. 2004;19(3):271-5. doi: 10.1007/s00467-003-1366-z.
38) European Alport Therapy Registry. European initiative towards delaying renal failure in Alport syndrome [Internet]. ClinicalTrials.gov: NCT02378805. First posted: March 4, 2015; Last update: March 24, 2020. Disponible en: (consulta: 01/01/2020).
39) Wühl E, Mehls O, Schaefer F; ESCAPE Trial Group. Antihypertensive and antiproteinuric efficacy of ramipril in children with chronic renal failure. Kidney Int. 2004;66(2):768-76. doi: 10.1111/j.1523-1755.2004.00802.x.
40) Seeman T, Pohl M, Misselwitz J, John U. Angiotensin receptor blocker reduces proteinuria independently of blood pressure in children already treated with Angiotensin-converting enzyme inhibitors. Kidney Blood Press Res. 2009;32(6):440-4. doi: 10.1159/000266478.
41) Lubrano R, Soscia F, Elli M, Ventriglia F, Raggi C, Travasso E, et al. Renal and cardiovascular effects of angiotensin-converting enzyme inhibitor plus angiotensin II receptor antagonist therapy in children with proteinuria. Pediatrics. 2006;118(3):e833-8. doi: 10.1542/peds.2005-2053.
42) Savva I, Pierides A, Deltas C. RAAS inhibition and the course of Alport syndrome. Pharmacol Res. 2016;107:205-10. doi: 10.1016/j.phrs.2016.03.017.
43) Kaito H, Nozu K, Iijima K, Nakanishi K, Yoshiya K, Kanda K, et al. The effect of aldosterone blockade in patients with Alport syndrome. Pediatr Nephrol. 2006;21(12):1824-9. doi: 10.1007/s00467-006-0270-8.
44) Ku E, Campese VM. Role of aldosterone in the progression of chronic kidney disease and potential use of aldosterone blockade in children. Pediatr Nephrol. 2009;24(12):2301-7. doi: 10.1007/s00467-009-1176-z.
45) Zhang Z, Li Z, Cao K, Fang D, Wang F, Bi G, et al. Adjunctive therapy with statins reduces residual albuminuria/proteinuria and provides further renoprotection by downregulating the angiotensin II-AT1 pathway in hypertensive nephropathy. J Hypertens. 2017;35(7):1442-56. doi: 10.1097/HJH.0000000000001325.
46) Daina E, Cravedi P, Alpa M, Roccatello D, Gamba S, Perna A, et al. A multidrug, antiproteinuric approach to Alport syndrome: a ten-year cohort study. Nephron. 2015;130(1):13-20. doi: 10.1159/000381480.
47) LeBleu V, Sugimoto H, Mundel TM, Gerami-Naini B, Finan E, Miller CA, et al. Stem cell therapies benefit Alport syndrome. J Am Soc Nephrol. 2009;20(11):2359-70. doi: 10.1681/ASN.2009010123.
48) Moschidou D, Corcelli M, Hau KL, Ekwalla VJ, Behmoaras JV, De Coppi P, et al. Human chorionic stem cells: podocyte differentiation and potential for the treatment of Alport syndrome. Stem Cells Dev. 2016;25(5):395-404. doi: 10.1089/scd.2015.0305.
49) Massella L, Muda AO, Legato A, Di Zazzo G, Giannakakis K, Emma F. Cyclosporine a treatment in patients with Alport syndrome: a single-center experience. Pediatr Nephrol. 2010;25(7):1269-75. doi: 10.1007/s00467-010-1484-3.
50) Gross O, Perin L, Deltas C. Alport syndrome from bench to bedside: the potential of current treatment beyond RAAS blockade and the horizon of future therapies. Nephrol Dial Transplant. 2014;29(Suppl. 4):iv124-30. doi: 10.1093/ndt/gfu028.
51) Kashtan CE, McEnery PT, Tejani A, Stablein DM. Renal allograft survival according to primary diagnosis: a report of the North American Pediatric Renal Transplant Cooperative Study. Pediatr Nephrol. 1995;9(6):679-84. doi: 10.1007/bf00868709.
52) Suranyi E, Nagy V, Berta A, Matyus J, Szalai E, Ujhelyi B, et al. Alport patients without classic ocular symptoms have smaller lens diameter. Med Sci Monit. 2019;25:2274-7. doi: 10.12659/MSM.912924.
2) Tapia-Cerpa CE, Miyahira-Arakaki J. Síndrome de Alport autosómico recesivo. A propósito de un caso. Rev Med Hered. 2008;19(1):25-8.
3) Kruegel J, Rubel D, Gross O. Alport syndrome--insights from basic and clinical research. Nat Rev Nephrol. 2013;9(3):170-8. doi: 10.1038/nrneph.2012.259.
4) Heidet L, Gubler MC. Syndrome d’Alport : néphropathie héréditaire associée à des mutations dans les gènes codant les chaînes de collagène de type IV [Alport syndrome: Hereditary nephropathy associated with mutations in genes coding for type IV collagen chains]. Nephrol Ther. 2016;12(7):544-51. doi: 10.1016/j.nephro.2016.09.001.
5) Rubel D, Frese J, Martin M, Leibnitz A, Girgert R, Miosge N, et al. Collagen receptors integrin alpha2beta1 and discoidin domain receptor 1 regulate maturation of the glomerular basement membrane and loss of integrin alpha2beta1 delays kidney fibrosis in COL4A3 knockout mice. Matrix Biol. 2014; 34:13-21. doi: 10.1016/j.matbio.2014.01.006.
6) Cosgrove D, Liu S. Collagen IV diseases: A focus on the glomerular basement membrane in Alport syndrome. Matrix Biol. 2017;57-58:45-54. doi: 10.1016/j.matbio.2016.08.005.
7) Hudson BG, Tryggvason K, Sundaramoorthy M, Neilson EG. Alport's syndrome, Goodpasture's syndrome, and type IV collagen. N Engl J Med. 2003;348(25):2543-56. doi: 10.1056/NEJMra022296 .
8) Williams EW, Turner AN. Glomerular basement membrane disorders and the kidney. Medicine. 2015;43(9):526-8. doi: 10.1016/j.mpmed.2015.06.010.
9) Plevová P, Gut J, Janda J. Familial hematuria: a review. Medicina (Kaunas). 2017;53(1):1-10. doi: 10.1016/j.medici.2017.01.002.
10) Longo I, Porcedda P, Mari F, Giachino D, Meloni I, Deplano C, et al. COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome. Kidney Int. 2002;61(6):1947-56. doi: 10.1046/j.1523-1755.2002.00379.x.
11) Gross O, Netzer KO, Lambrecht R, Seibold S, Weber M. Novel COL4A4 splice defect and in-frame deletion in a large consanguine family as a genetic link between benign familial haematuria and autosomal Alport syndrome. Nephrol Dial Transplant. 2003;18(6):1122-7. doi: 10.1093/ndt/gfg157.
12) Kashtan CE. Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy. Curr Opin Pediatr. 2004;16(2):177-81. doi: 10.1097/00008480-200404000-00011.
13) Deltas C, Pierides A, Voskarides K. Molecular genetics of familial hematuric diseases. Nephrol Dial Transplant. 2013;28(12):2946-60. doi: 10.1093/ndt/gft253.
14) Savige J, Storey H, Il Cheong H, Kang HG, Park E, Hilbert P, et al. X-linked and autosomal recessive Alport syndrome: pathogenic variant features and further genotype-phenotype correlations. PLoS One. 2016;11(9):e0161802. doi: 10.1371/journal.pone.0161802.
15) Wang Y, Sivakumar V, Mohammad M, Colville D, Storey H, Flinter, et al. Clinical and genetic features in autosomal recessive and X-linked Alport syndrome. Pediatr Nephrol. 2014;29(3):391-6. doi: 10.1007/s00467-013-2643-0.
16) Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, et al. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study. J Am Soc Nephrol. 2003;14(10):2603-10. doi: 10.1097/01.asn.0000090034.71205.74.
17) Xu JM, Zhang SS, Zhang Q, Zhou YM, Zhu CH, Ge J, et al. Ocular manifestations of Alport syndrome. Int J Ophthalmol. 2010;3(2):149-51. doi: 10.3980/j.issn.2222-3959.2010.02.13.
18) McCarthy PA, Maino DM. Alport syndrome: a review. Clin Eye Vis Care. 2000;12(3-4):139-50. doi: 10.1016/S0953-4431(00)00042-4.
19) Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, et al. Expert consensus guidelines for the genetic diagnosis of Alport syndrome. Pediatr Nephrol. 2019;34(7):1175-89. doi: 10.1007/s00467-018-3985-4.
20) Kashtan CE. Alport Syndrome. En: Adam MP, Ardinger HH, Pagon RA, et al. GeneReviews® [Internet]. Seattle: University of Washington, 1993-2020. Disponible en:
21) Praga M, Caravaca F, Yuste C, Cavero T, Hernández E, Morales E, et al. Nefropatía IgA: ¿qué pacientes están en riesgo de progresar a enfermedad renal terminal y cómo deberían ser tratados? Nefrología (Madr.). 2018;38(4):347-52. doi: 10.1016/j.nefro.2018.01.001.
22) Alport Syndrome Rare Disease Group. Alport Syndrome: clinician information [Internet]. En: RareRenal Information on Rare Kidney Disease.
Disponible en:
23) Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F. Expert guidelines or the management of Alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol. 2013;24(3):364-75. doi: 10.1681/ASN.2012020148.
24) Heidet L, Gubler MC. The renal lesions of Alport syndrome. J Am Soc Nephrol. 2009;20(6):1210-5. doi: 10.1681/ASN.2008090984.
25) Fogo AB, Lusco MA, Najafian B, Alpers CE. AJKD Atlas of Renal Pathology: Alport Syndrome. Am J Kidney Dis. 2016;68(4):e15-e16. doi: 10.1053/j.ajkd.2016.08.002.
26) van der Loop FT, Monnens LA, Schröder CH, Lemmink HH, Breuning MH, Timmer ED, et al. Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin. Kidney Int. 1999;55(4):1217-24. doi: 10.1046/j.1523-1755.1999.00357.x.
27) Praga M, Torra R, Tazón B. Hematuria familiar benigna. Nefrología (Madr.). 2003;23(Suppl. 1):40-5.
28) Singh N, Nainani N, Arora P, Venuto RC. CKD in MYH9-related disorders. Am J Kidney Dis. 2009;54(4):732-40. doi: 10.1053/j.ajkd.2009.06.023.
29) Simckes A, Blowey D, Gyves K, Alon US. Success and safety of same-day kidney biopsy in children and adolescents. Pediatr Nephrol. 2000;14(10-11):946-52. doi: 10.1007/s004670000316.
30) Miglinas M. Utility of renal biopsy in the clinical management of renal disease: hematuria should not be missed. Kidney Int. 2014;86(6):1269. doi: 10.1038/ki.2014.277.
31) Liderman S. Registro Argentino de Biopsias Renales. Reporte de situación en Capital Federal y Gran Buenos Aires a abril del 2008. Rev Nefrol Dial Traspl. 2008;28(2):55-60.
32) Orta N, Sanna V, Moriyón JC, de Orta S, Domínguez L, Zibaoui P, et al. Hematuria en niños: análisis de la casuística en un centro de referencia nacional. Valencia, Venezuela. Rev Chil Pediatr. 2001;72(2):92-9. doi: 10.4067/S0370-41062001000200003.
33) Kashtan CE, Ding J, Gregory M, Gross O, Heidet L, Knebelmann B, et al. Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative. Pediatr Nephrol. 2013;28(1):5-11. doi: 10.1007/s00467-012-2138-4.
34) Cravedi P, Remuzzi G. Pathophysiology of proteinuria and its value as an outcome measure in chronic kidney disease. Br J Clin Pharmacol. 2013;76(4):516-23. doi: 10.1111/bcp.12104.
35) Gross O, Beirowski B, Koepke ML, Kuck J, Reiner M, Addicks K, et al. Preemptive ramipril therapy delays renal failure and reduces renal fibrosis in COL4A3-knockout mice with Alport syndrome. Kidney Int. 2003;63(2):438-46. doi: 10.1046/j.1523-1755.2003.00779.x.
36) de Lucas Collantes C, Izquierdo García E. Proteinuria. En: Protocolos diganósticos y terapéuticos en nefrología pediátrica [Internet]. 3a ed. Madrid: Asociación Española de Pediatría, 2014, pp. 69-79. (Serie Protocolos de la AEP). Disponible en:
37) Proesmans W, Van Dyck M. Enalapril in children with Alport syndrome. Pediatr Nephrol. 2004;19(3):271-5. doi: 10.1007/s00467-003-1366-z.
38) European Alport Therapy Registry. European initiative towards delaying renal failure in Alport syndrome [Internet]. ClinicalTrials.gov: NCT02378805. First posted: March 4, 2015; Last update: March 24, 2020. Disponible en:
39) Wühl E, Mehls O, Schaefer F; ESCAPE Trial Group. Antihypertensive and antiproteinuric efficacy of ramipril in children with chronic renal failure. Kidney Int. 2004;66(2):768-76. doi: 10.1111/j.1523-1755.2004.00802.x.
40) Seeman T, Pohl M, Misselwitz J, John U. Angiotensin receptor blocker reduces proteinuria independently of blood pressure in children already treated with Angiotensin-converting enzyme inhibitors. Kidney Blood Press Res. 2009;32(6):440-4. doi: 10.1159/000266478.
41) Lubrano R, Soscia F, Elli M, Ventriglia F, Raggi C, Travasso E, et al. Renal and cardiovascular effects of angiotensin-converting enzyme inhibitor plus angiotensin II receptor antagonist therapy in children with proteinuria. Pediatrics. 2006;118(3):e833-8. doi: 10.1542/peds.2005-2053.
42) Savva I, Pierides A, Deltas C. RAAS inhibition and the course of Alport syndrome. Pharmacol Res. 2016;107:205-10. doi: 10.1016/j.phrs.2016.03.017.
43) Kaito H, Nozu K, Iijima K, Nakanishi K, Yoshiya K, Kanda K, et al. The effect of aldosterone blockade in patients with Alport syndrome. Pediatr Nephrol. 2006;21(12):1824-9. doi: 10.1007/s00467-006-0270-8.
44) Ku E, Campese VM. Role of aldosterone in the progression of chronic kidney disease and potential use of aldosterone blockade in children. Pediatr Nephrol. 2009;24(12):2301-7. doi: 10.1007/s00467-009-1176-z.
45) Zhang Z, Li Z, Cao K, Fang D, Wang F, Bi G, et al. Adjunctive therapy with statins reduces residual albuminuria/proteinuria and provides further renoprotection by downregulating the angiotensin II-AT1 pathway in hypertensive nephropathy. J Hypertens. 2017;35(7):1442-56. doi: 10.1097/HJH.0000000000001325.
46) Daina E, Cravedi P, Alpa M, Roccatello D, Gamba S, Perna A, et al. A multidrug, antiproteinuric approach to Alport syndrome: a ten-year cohort study. Nephron. 2015;130(1):13-20. doi: 10.1159/000381480.
47) LeBleu V, Sugimoto H, Mundel TM, Gerami-Naini B, Finan E, Miller CA, et al. Stem cell therapies benefit Alport syndrome. J Am Soc Nephrol. 2009;20(11):2359-70. doi: 10.1681/ASN.2009010123.
48) Moschidou D, Corcelli M, Hau KL, Ekwalla VJ, Behmoaras JV, De Coppi P, et al. Human chorionic stem cells: podocyte differentiation and potential for the treatment of Alport syndrome. Stem Cells Dev. 2016;25(5):395-404. doi: 10.1089/scd.2015.0305.
49) Massella L, Muda AO, Legato A, Di Zazzo G, Giannakakis K, Emma F. Cyclosporine a treatment in patients with Alport syndrome: a single-center experience. Pediatr Nephrol. 2010;25(7):1269-75. doi: 10.1007/s00467-010-1484-3.
50) Gross O, Perin L, Deltas C. Alport syndrome from bench to bedside: the potential of current treatment beyond RAAS blockade and the horizon of future therapies. Nephrol Dial Transplant. 2014;29(Suppl. 4):iv124-30. doi: 10.1093/ndt/gfu028.
51) Kashtan CE, McEnery PT, Tejani A, Stablein DM. Renal allograft survival according to primary diagnosis: a report of the North American Pediatric Renal Transplant Cooperative Study. Pediatr Nephrol. 1995;9(6):679-84. doi: 10.1007/bf00868709.
52) Suranyi E, Nagy V, Berta A, Matyus J, Szalai E, Ujhelyi B, et al. Alport patients without classic ocular symptoms have smaller lens diameter. Med Sci Monit. 2019;25:2274-7. doi: 10.12659/MSM.912924.
Publicado
2021-03-25
Cómo citar
1.
Courville K, Núñez-Samudio V, Landires I. Síndrome de Alport: una actualización en fisiopatología, genética, diagnóstico y tratamiento. Rev Nefrol Dial Traspl. [Internet]. 25 de marzo de 2021 [citado 22 de diciembre de 2024];41(1):62-1. Disponible en: http://revistarenal.org.ar/index.php/rndt/article/view/619
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Artículo de Revisión
Derechos de autor 2021 Revista de Nefrología, Diálisis y Trasplante
Esta obra está bajo licencia internacional Creative Commons Reconocimiento-NoComercial-CompartirIgual 4.0.
