C3 Glomerulonephritis in a patient with AlportSyndrome: a rare case
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Keywords

Alport Syndrome
hereditary nephritis
glomerulonephritis
C3 glomerulonephritis
nephrotic syndrome
glomerular basement membrane

How to Cite

1.
Sánchez Solano MA, Guerrero Tinoco GA. C3 Glomerulonephritis in a patient with AlportSyndrome: a rare case. Rev. Colomb. Nefrol. [Internet]. 2022 Jan. 20 [cited 2022 May 18];9(1):e491. Available from: https://revistanefrologia.org/index.php/rcn/article/view/491

Abstract

Alport Syndrome is a hereditary entity that occurs mainly due to a mutation in the genes that encode type IV collagen. C3 glomerulonephritis is a rare entity with a pattern of membranoproliferative glomerulonephritis and its etiology is based on abnormal control of the activation of the alternative complement pathway. We describe a case of a male patient who presents with a corticosteroid nephrotic syndrome in which a pattern of membranoproliferative glomerulonephritis is documented in the renal biopsy with C3 deposits in the immunofluorescence, associated with a heterozygous deletion in the gene CFHR1 in the genetic study of complement regulatory proteins. Furthermore, a variant COL4A5 associated with X-linked Alport syndrome is found in the genetic panel for corticosteroid resistance. These entities can present with a diverse clinical course, but when associated they can accelerate progression to chronic kidney disease, which is why makes it necessary to do a more strict clinical follow-up.

https://doi.org/10.22265/acnef.9.1.491
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References

Kashtan CE, Ding J, Garosi G, Heidet L, Massella L, Nakanishi K, et al. Alport syndrome: a unified classification of genetic disorders of collagen IV ?345: a position paper of the Alport Syndrome Classification Working Group. Kidney Int. 2018;93:1045–51. http://doi.org/10.1016/j.kint.2017.12.018

Hou J, Markowitz GS, Bomback AS, Appel GB, Herlitz LC, Barry Stokes M, et al. Towarda working definition of C3 glomerulopathy by immunofluorescence. Kidney Int [Internet].2014;85(2):450-6. DOI: https://doi.org/10.1038/ki.2013.340

Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F. Expert guidelines for the management of alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol. 2013;24:364–75. DOI: http://doi.org/10.1681/ASN.2012020148

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;28:5–11. http:// 10.1007/s00467-012-2138-4

Feingold J, Bois E, Chompret A, Broyer M, Gubler MC, Grünfeld JP. Genetic heterogeneity of Alport syndrome. Kidney Int. 1985;27:672–7. http://doi.org/10.1038/ki.1985.63

Levy M, Feingold J. Estimating prevalence in single-gene kidney diseases progressing to renal failure. Kidney Int. 2000;58:925–43. DOI: http://doi.org/10.1046/j.1523-1755.2000.00250.x

Raju P, Cimbaluk D, Korbet SM. The variable course of women with X-linked Alport Syndrome. Clin Kidney J. 2013;6:630–4. DOI: http://doi.org/10.1093/ckj/sft107

Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D. Ocular features in Alport syndrome: Pathogenesis and clinical significance. Clin J Am Soc Nephrol. 2015;10:703–9. DOI: http://doi.org/10.2215/CJN.10581014

Veloso MP, Neves PDMM, Jorge LB, Dias CB, Yu L, Pinheiro RBB, et al. Female Patient with Alport Syndrome and Concomitant Membranous Nephropathy: Susceptibility or Association of Two Diseases?. Nephron. 2017;136:158–62. DOI: http://doi.org/10.1159/000458710

Noris M, Donadelli R, Remuzzi G. Autoimmune abnormalities of the alternative complement pathway in membranoproliferative glomerulonephritis and C3 glomerulopathy. Pediatr Nephrol. 2019;34:1311–23. DOI: http://doi.org/10.1007/s00467-018-3989-0

Riedl M, Thorner P, Licht C. C3 Glomerulopathy. Pediatr Nephrol. 2017;32:43–57. DOI: http://doi.org/10.1007/s00467-015-3310-4

Sethi S, Fervenza FC, Zhang Y, Zand L, Vrana JA, Nasr SH, et al. C3 glomerulonephritis: Clinicopathological findings, complement abnormalities, glomerular proteomic profile, treatment, and follow-up. Kidney Int [Internet]. 2012;82:465–73. DOI: http://dx.doi.org/10.1038/ki.2012.212

Rabasco-Ruiz C, Huerta-Arroyo A, Caro-Espada J, Gutiérrez-Martínez E, Praga-Terente M. C3 glomerulopathies. A new perspective on glomerular diseases. Nefrologia. 2013;33:164–70. DOI: http://doi.org/10.3265/Nefrologia.pre2012.Nov.11802

Rabasco C, Cavero T, Román E, Rojas-Rivera J, Olea T, Espinosa M, et al. Effectivenessof mycophenolate mofetil in C3 glomerulonephritis. Kidney Int. 2015;88(5):1153-60. DOI:https://doi.org/10.1038/ki.2015.227

Caravaca-Fontán F, Díaz-Encarnación MM, Lucientes L, Cavero T, Cabello V, Ariceta G,et al. Mycophenolate mofetil in c3 glomerulopathy and pathogenic drivers of the disease.Clin J Am Soc Nephrol. 2020;15(9):1287-98. DOI: http://doi.org/10.2215/CJN.15241219

Bomback AS. Eculizumab in the treatment of membranoproliferative glomerulonephritis. Nephron - Clin Pract. 2014;128:270–6. DOI: http://doi.org/10.1159/000368592

Hudson BG, Tryggvason K, Sundaramoorthy M, Neilson EG. Alport’s syndrome, Goodpasture’s syndrome, and type IV collagen. N Engl J Med. 2003;348:2543–56. DOI: http://doi.org/10.1056/NEJMra022296

Kashtan CE. Familial hematuria. Pediatr Nephrol. 2009;24(10):1951–8. http://doi.org/10.1007/s00467-007-0622-z

Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, et al. X-linked Alport syndrome: Natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol. 2000;11:649–57. DOI: https://doi.org/10.1681/ASN.V114649

Gaboardi F, Edefonti A, Imbasciati E, Tarantino A, Mihatsch M, Zollinger H. Alport’s syndrome (progressive hereditary nephritis). Clin Nephrol. 1974;2:143–56.

Gubler M, Levy M, Broyer M, Naizot G, Gonzalez G, Perrin D, et al. Alport’s syndrome. A report of 58 cases and a review of the literature. Am J Med. 1981;70:493–505. DOI: http://doi.org/10.1016/0002-9343(81)90571-4

Meroni M, Sessa A, Battini G, Torri Tarelli L, Bertani T, Renieri A, et al. Alport syndrome with type I membranoproliferative glomerulonephritis. Nephron. 1993;65:479–80. DOI: http://doi.org/10.1159/000187539

Nasr SH, Markowitz GS, Goldstein CS, Fildes RD, D’Agati VD. Hereditary nephritis mimicking immune complex-mediated glomerulonephritis. Hum Pathol. 2006;37:547–54. DOI: http://doi.org/10.1016/j.humpath.2005.12.017

Papazachariou L, Papagregoriou G, Hadjipanagi D, Demosthenous P, Voskarides K, Koutsofti C, et al. Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis. Clin Genet. 2017;92:517–27. DOI: http://doi.org/10.1111/cge.13077

Tao J, Lieberman J, Lafayette RA, Kambham N. A rare case of Alport syndrome, atypical hemolytic uremic syndrome and Pauci-immune crescentic glomerulonephritis. BMC Nephrol. 2018;19:1–7. DOI: http://doi.org/10.1186/s12882-018-1170-4

Gillion V, Jadoul M, Aydin S, Godefroid N. ANCA vasculitis in a patient with Alport syndrome: a difficult diagnosis but a treatable disease! BMC Nephrol. 2017;18:1–4. DOI: http://doi.org/10.1186/s12882-017-0527-4

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