Gross Hematuria, Edema, and Hypocomplementemia in a 9-year-old Boy: Answers

Overview

Journal Pediatr Nephrol

Specialties Nephrology
Pediatrics

Date 2022 Mar 30

PMID 35352193

Authors

Juanjuan Ding

Panli Liao

Gaohong Zhu

Chang Qi

Lili Liu

Peiwei Zhao

Xiaowen Wang

Affiliations

Soon will be listed here.

Citing Articles

Genetic, Clinical, and Pathologic Backgrounds of Children With X-Linked Alport Syndrome in China: A Monocenter Study.

Juan-Juan D, Jia W, Li-Li L, Si W, Xiao-Wen W, Jiang-Wei L Glob Pediatr Health. 2024; 11:2333794X231221935.

PMID: 38249544 PMC: 10799596. DOI: 10.1177/2333794X231221935.

References

Habib R, Gubler M, HINGLAIS N, Noel L, Droz D, Levy M . Alport's syndrome: experience at Hôpital Necker. Kidney Int Suppl. 1982; 11:S20-8. View

Kleppel M, Kashtan C, Butkowski R, Fish A, Michael A . Alport familial nephritis. Absence of 28 kilodalton non-collagenous monomers of type IV collagen in glomerular basement membrane. J Clin Invest. 1987; 80(1):263-6. PMC: 442227. DOI: 10.1172/JCI113057. View

Feingold J, Bois E, Chompret A, Broyer M, Gubler M, Grunfeld J . Genetic heterogeneity of Alport syndrome. Kidney Int. 1985; 27(4):672-7. DOI: 10.1038/ki.1985.63. View

Beicht S, Strobl-Wildemann G, Rath S, Wachter O, Alberer M, Kaminsky E . Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome. Gene. 2013; 526(2):474-7. DOI: 10.1016/j.gene.2013.05.045. View

Ding Y, Tang X, Du Y, Chen H, Yu D, Zhu B . Co-existence of Alport syndrome and C3 glomerulonephritis in a proband with family history. Eur J Med Res. 2021; 26(1):71. PMC: 8265006. DOI: 10.1186/s40001-021-00543-5. View

Jais J, Knebelmann B, Giatras I, Marchi M, Rizzoni G, Renieri A . X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol. 2000; 11(4):649-657. DOI: 10.1681/ASN.V114649. View

Bekheirnia M, Reed B, Gregory M, McFann K, Shamshirsaz A, Masoumi A . Genotype-phenotype correlation in X-linked Alport syndrome. J Am Soc Nephrol. 2010; 21(5):876-83. PMC: 2865738. DOI: 10.1681/ASN.2009070784. View

Rumpelt H, Langer K, Scharer K, Straub E, Thoenes W . Split and extremely thin glomerular basement membranes in hereditary nephropathy (Alport's syndrome). Virchows Arch A Pathol Anat Histol. 1974; 364(3):225-33. DOI: 10.1007/BF00433075. View

Cosgrove D, Liu S . Collagen IV diseases: A focus on the glomerular basement membrane in Alport syndrome. Matrix Biol. 2016; 57-58:45-54. PMC: 5328792. DOI: 10.1016/j.matbio.2016.08.005. View

10.

Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T . A review of clinical characteristics and genetic backgrounds in Alport syndrome. Clin Exp Nephrol. 2018; 23(2):158-168. PMC: 6510800. DOI: 10.1007/s10157-018-1629-4. View

11.

Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O . Expert consensus guidelines for the genetic diagnosis of Alport syndrome. Pediatr Nephrol. 2018; 34(7):1175-1189. DOI: 10.1007/s00467-018-3985-4. View

12.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J . 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. 2015; 17(5):405-24. PMC: 4544753. DOI: 10.1038/gim.2015.30. View

13.

Fakhouri F, Fremeaux-Bacchi V, Noel L, Cook H, Pickering M . C3 glomerulopathy: a new classification. Nat Rev Nephrol. 2010; 6(8):494-9. DOI: 10.1038/nrneph.2010.85. View

14.

Pickering M, DAgati V, Nester C, Smith R, Haas M, Appel G . C3 glomerulopathy: consensus report. Kidney Int. 2013; 84(6):1079-89. PMC: 3842953. DOI: 10.1038/ki.2013.377. View

15.

Cook H, Pickering M . Histopathology of MPGN and C3 glomerulopathies. Nat Rev Nephrol. 2014; 11(1):14-22. DOI: 10.1038/nrneph.2014.217. View

16.

Sethi S, Gamez J, Vrana J, Theis J, Bergen 3rd H, Zipfel P . Glomeruli of Dense Deposit Disease contain components of the alternative and terminal complement pathway. Kidney Int. 2009; 75(9):952-60. PMC: 2738640. DOI: 10.1038/ki.2008.657. View

17.

Noris M, Donadelli R, Remuzzi G . Autoimmune abnormalities of the alternative complement pathway in membranoproliferative glomerulonephritis and C3 glomerulopathy. Pediatr Nephrol. 2018; 34(8):1311-1323. DOI: 10.1007/s00467-018-3989-0. View

18.

Paixao-Cavalcante D, Lopez-Trascasa M, Skattum L, Giclas P, Goodship T, Rodriguez de Cordoba S . Sensitive and specific assays for C3 nephritic factors clarify mechanisms underlying complement dysregulation. Kidney Int. 2012; 82(10):1084-92. PMC: 3608896. DOI: 10.1038/ki.2012.250. View

19.

Licht C, Heinen S, Jozsi M, Loschmann I, Saunders R, Perkins S . Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II). Kidney Int. 2006; 70(1):42-50. DOI: 10.1038/sj.ki.5000269. View

20.

Iatropoulos P, Noris M, Mele C, Piras R, Valoti E, Bresin E . Complement gene variants determine the risk of immunoglobulin-associated MPGN and C3 glomerulopathy and predict long-term renal outcome. Mol Immunol. 2016; 71:131-142. DOI: 10.1016/j.molimm.2016.01.010. View