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Gross hematuria, edema, and hypocomplementemia in a 9-year-old boy: Answers

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References

  1. Habib R, Gubler MC, Hinglais N, Noel LH, Droz D, Levy M, Mahieu P, Foidart JM, Perrin D, Bois E, Grunfeld JP (1982) Alport’s syndrome: experience at Hopital Necker. Kidney Int Suppl 11:S20–S28

    CAS  PubMed  Google Scholar 

  2. Kleppel MM, Kashtan CE, Butkowski RJ, Fish AJ, Michael AF (1987) Alport familial nephritis. Absence of 28 kilodalton non-collagenous monomers of type IV collagen in glomerular basement membrane. J Clin Invest 80:263–266. https://doi.org/10.1172/JCI113057

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Feingold J, Bois E, Chompret A, Broyer M, Gubler MC, Grunfeld JP (1985) Genetic heterogeneity of Alport syndrome. Kidney Int 27:672–677. https://doi.org/10.1038/ki.1985.63

    Article  CAS  PubMed  Google Scholar 

  4. Beicht S, Strobl-Wildemann G, Rath S, Wachter O, Alberer M, Kaminsky E, Weber LT, Hinrichsen T, Klein HG, Hoefele J (2013) Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome. Gene 526:474–477. https://doi.org/10.1016/j.gene.2013.05.045

    Article  CAS  PubMed  Google Scholar 

  5. Ding Y, Tang X, Du Y, Chen H, Yu D, Zhu B, Yuan B (2021) Coexistence of Alport syndrome and C3 glomerulonephritis in a proband with family history. Eur J Med Res 26:71–75. https://doi.org/10.1186/s40001-021-00543-5

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC (2000) X-linked Alport syndrome: natural history in 195 families and genotype-phenotype correlations in males. J Am Soc Nephrol 11:649–657. https://doi.org/10.1681/ASN.V114649

    Article  CAS  PubMed  Google Scholar 

  7. Bekheirnia MR, Reed B, Gregory MC, McFann K, Shamshirsaz AA, Masoumi A, Schrier RW (2010) Genotype-phenotype correlation in X-linked Alport syndrome. J Am Soc Nephrol 21:876–883. https://doi.org/10.1681/ASN.2009070784

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Rumpelt HJ, Langer KH, Schärer K, Straub E, Thoenes W (1974) Split and extremely thin glomerular basement membranes in hereditary nephropathy (Alport’s syndrome). Virchows Arch A Pathol Anat Histol 364:225–233. https://doi.org/10.1007/BF00433075

    Article  CAS  PubMed  Google Scholar 

  9. Cosgrove D, Liu S (2017) Collagen IV diseases: a focus on the glomerular basement membrane in Alport syndrome. Matrix Biol 57–58:45–54. https://doi.org/10.1016/j.matbio.2016.08.005

    Article  CAS  PubMed  Google Scholar 

  10. Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, Kaito H, Kanemoto K, Kobayashi A, Tanaka E, Tanaka K, Hama T, Fujimaru R, Miwa S, Yamamura T, Yamamura N, Horinouchi T, Minamikawa S, Nagata M, Iijima K (2019) A review of clinical characteristics and genetic backgrounds in Alport syndrome. Clin Exp Nephrol 23:158–168. https://doi.org/10.1007/s10157-018-1629-4

    Article  PubMed  Google Scholar 

  11. Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H (2019) Expert consensus guidelines for the genetic diagnosis of Alport syndrome. Pediatr Nephrol 34:1175–1189. https://doi.org/10.1007/s00467-018-3985-4

    Article  PubMed  Google Scholar 

  12. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, Laboratory Quality Assurance Committee ACMG (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–424. https://doi.org/10.1038/gim.2015.30

    Article  PubMed  PubMed Central  Google Scholar 

  13. Fakhouri F, Frémeaux-Bacchi V, Noël LH, Cook HT, Pickering MC (2010) C3 glomerulopathy: a new classification. Nat Rev Nephrol 6:494–499. https://doi.org/10.1038/nrneph.2010.85

    Article  CAS  PubMed  Google Scholar 

  14. Pickering MC, D’Agati VD, Nester CM, Smith RJ, Haas M, Appel GB, Alpers CE, Bajema IM, Bedrosian C, Braun M, Doyle M, Fakhouri F, Fervenza FC, Fogo AB, Fremeaux-Bacchi V, Gale DP, Goicoechea De Jorge E, Griffin G, Harris CL, Holers VM, Johnson S, Lavin PJ, Medjeral-Thomas N, Paul Morgan B, Nast CC, Noel LH, Peters DK, Rodriguez De Cordoba S, Servais A, Sethi S, Song WC, Tamburini P, Thurman JM, Zavros M, Cook HT (2013) C3 glomerulopathy: consensus report. Kidney Int 84:1079–1089. https://doi.org/10.1038/ki.2013.377

    Article  PubMed  PubMed Central  Google Scholar 

  15. Cook HT, Pickering MC (2015) Histopathology of MPGN and C3 glomerulopathies. Nat Rev Nephrol 11:14–22. https://doi.org/10.1038/nrneph.2014.217

    Article  CAS  PubMed  Google Scholar 

  16. Sethi S, Gamez JD, Vrana JA, Theis JD, Bergen HR 3rd, Zipfel PF, Dogan A, Smith RJH (2009) Glomeruli of dense deposit disease contain components of the alternative and terminal complement pathway. Kidney Int 75:952–960. https://doi.org/10.1038/ki.2008.657

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  17. Noris M, Donadelli R, Remuzzi G (2019) Autoimmune abnormalities of the alternative complement pathway in membranoproliferative glomerulonephritis and C3 glomerulopathy. Pediatr Nephrol 34:1311–1323. https://doi.org/10.1007/s00467-018-3989-0

    Article  PubMed  Google Scholar 

  18. Paixao-Cavalcante D, Lopez-Trascasa M, Skattum L, Giclas PC, Goodship TH, de Cordoba SR, Truedsson L, Morgan BP, Harris CL (2012) Sensitive and specific assays for C3 nephritic factors clarify mechanisms underlying complement dysregulation. Kidney Int 82:1084–1092. https://doi.org/10.1038/ki.2012.250

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  19. Licht C, Heinen S, Jozsi M, Loschmann I, Saunders RE, Perkins SJ, Waldherr R, Skerka C, Kirschfink M, Hoppe B, Zipfel PF (2006) Deletion of Lys224 in regulatory domain 4 of factor H reveals a novel pathomechanism for dense deposit disease (MPGN II). Kidney Int 70:42–50. https://doi.org/10.1038/sj.ki.5000269

    Article  CAS  PubMed  Google Scholar 

  20. Iatropoulos P, Noris M, Mele C, Piras R, Valoti E, Bresin E, Curreri M, Mondo E, Zito A, Gamba S, Bettoni S, Murer L, Fremeaux-Bacchi V, Vivarelli M, Emma F, Daina E, Remuzzi G (2016) Complement gene variants determine the risk of immunoglobulin-associated MPGN and C3 glomerulopathy and predict long-term renal outcome. Mol Immunol 71:131–142. https://doi.org/10.1016/j.molimm.2016.01.010

    Article  CAS  PubMed  Google Scholar 

  21. Prohászka Z, Nilsson B, Frazer-Abel A, Kirschfink M (2016) Complement analysis 2016: clinical indications, laboratory diagnostics and quality control. Immunobiology 221:1247–1258. https://doi.org/10.1016/j.imbio.2016.06.008

    Article  CAS  PubMed  Google Scholar 

  22. Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F (2013) Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol 24:364–375. https://doi.org/10.1681/ASN.2012020148

    Article  CAS  PubMed  Google Scholar 

  23. Rabasco C, Cavero T, Román E, Rojas-Rivera J, Olea T, Espinosa M, Cabello V, FernándezJuarez G, González F, Ávila A, Baltar JM, Díaz M, Alegre R, Elías S, Antón M, Frutos MA, Pobes A, Blasco M, Martín F, Bernis C, Macías M, Barroso S, de Lorenzo A, Ariceta G, López-Mendoza M, Rivas B, LópezRevuelta K, Campistol JM, Mendizábal S, Rodríguez de Córdoba S, Praga M; Spanish Group for the Study of Glomerular Diseases (GLOSEN) (2015) Effectiveness of mycophenolate mofetil in C3 glomerulonephritis. Kidney Int 88:1153-1160.https://doi.org/10.1038/ki.2015.227

  24. Bomback AS, Smith RJ, Barile GR, Zhang Y, Heher EC, Herlitz L, Stokes MB, Markowitz GS, D’Agati VD, Canetta PA, Radhakrishnan J, Appel GB (2012) Eculizumab for dense deposit disease and C3 glomerulonephritis. Clin J Am Soc Nephrol 7:748–756. https://doi.org/10.2215/CJN.12901211

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Ding, J., Liao, P., Zhu, G. et al. Gross hematuria, edema, and hypocomplementemia in a 9-year-old boy: Answers. Pediatr Nephrol 37, 2349–2353 (2022). https://doi.org/10.1007/s00467-022-05539-9

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