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C3 glomerulonephritis

MedGen UID:
884569
Concept ID:
C4055342
Disease or Syndrome
Synonyms: C3 Glomerulonephritis; CFHR5 deficiency; complement-mediated membranoproliferative glomerulonephritis; nephropathy due to CFHR5 deficiency
 
Monarch Initiative: MONDO:0013892
Orphanet: ORPHA329931

Definition

Researchers have identified two major forms of C3 glomerulopathy: dense deposit disease and C3 glomerulonephritis. Although the two disorders cause similar kidney problems, the features of dense deposit disease tend to appear earlier than those of C3 glomerulonephritis, usually in adolescence. However, the signs and symptoms of either disease may not begin until adulthood.

The kidney problems associated with C3 glomerulopathy tend to worsen over time. About half of affected individuals develop end-stage renal disease (ESRD) within 10 years after their diagnosis. ESRD is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.

One of the two forms of C3 glomerulopathy, dense deposit disease, can also be associated with other conditions unrelated to kidney function. For example, people with dense deposit disease may have acquired partial lipodystrophy, a condition characterized by a lack of fatty (adipose) tissue under the skin in the upper part of the body. Additionally, some people with dense deposit disease develop a buildup of yellowish deposits called drusen in the light-sensitive tissue at the back of the eye (the retina). These deposits usually appear in childhood or adolescence and can cause vision problems later in life.

C3 glomerulopathy is a group of related conditions that cause the kidneys to malfunction. The major features of C3 glomerulopathy include high levels of protein in the urine (proteinuria), blood in the urine (hematuria), reduced amounts of urine, low levels of protein in the blood, and swelling in many areas of the body. Affected individuals may have particularly low levels of a protein called complement component 3 (or C3) in the blood. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Welte T, Arnold F, Westermann L, Rottmann FA, Hug MJ, Neumann-Haefelin E, Ganner A
BMC Nephrol 2023 Jan 11;24(1):8. doi: 10.1186/s12882-023-03058-9. PMID: 36631797Free PMC Article
Ahmad SB, Bomback AS
Adv Chronic Kidney Dis 2020 Mar;27(2):104-110. doi: 10.1053/j.ackd.2019.12.003. PMID: 32553242
Rudnicki M
Biomed Res Int 2017;2017:2180508. Epub 2017 May 9 doi: 10.1155/2017/2180508. PMID: 28573137Free PMC Article

Recent clinical studies

Etiology

Heiderscheit AK, Hauer JJ, Smith RJH
Am J Med Genet C Semin Med Genet 2022 Sep;190(3):344-357. Epub 2022 Jun 23 doi: 10.1002/ajmg.c.31986. PMID: 35734939Free PMC Article
Caravaca-Fontán F, Lucientes L, Cavero T, Praga M
Nephron 2020;144(6):272-280. Epub 2020 May 5 doi: 10.1159/000507254. PMID: 32369815
Kaartinen K, Safa A, Kotha S, Ratti G, Meri S
Semin Immunol 2019 Oct;45:101331. Epub 2019 Nov 9 doi: 10.1016/j.smim.2019.101331. PMID: 31711769
Smith RJH, Appel GB, Blom AM, Cook HT, D'Agati VD, Fakhouri F, Fremeaux-Bacchi V, Józsi M, Kavanagh D, Lambris JD, Noris M, Pickering MC, Remuzzi G, de Córdoba SR, Sethi S, Van der Vlag J, Zipfel PF, Nester CM
Nat Rev Nephrol 2019 Mar;15(3):129-143. doi: 10.1038/s41581-018-0107-2. PMID: 30692664Free PMC Article
Floege J, Amann K
Lancet 2016 May 14;387(10032):2036-48. Epub 2016 Feb 25 doi: 10.1016/S0140-6736(16)00272-5. PMID: 26921911

Diagnosis

Heiderscheit AK, Hauer JJ, Smith RJH
Am J Med Genet C Semin Med Genet 2022 Sep;190(3):344-357. Epub 2022 Jun 23 doi: 10.1002/ajmg.c.31986. PMID: 35734939Free PMC Article
Caravaca-Fontán F, Lucientes L, Cavero T, Praga M
Nephron 2020;144(6):272-280. Epub 2020 May 5 doi: 10.1159/000507254. PMID: 32369815
Schena FP, Esposito P, Rossini M
Int J Mol Sci 2020 Jan 14;21(2) doi: 10.3390/ijms21020525. PMID: 31947692Free PMC Article
Kaartinen K, Safa A, Kotha S, Ratti G, Meri S
Semin Immunol 2019 Oct;45:101331. Epub 2019 Nov 9 doi: 10.1016/j.smim.2019.101331. PMID: 31711769
Floege J, Amann K
Lancet 2016 May 14;387(10032):2036-48. Epub 2016 Feb 25 doi: 10.1016/S0140-6736(16)00272-5. PMID: 26921911

Therapy

Mehdi A, Taliercio JJ
Cleve Clin J Med 2023 May 24;90(6 suppl 1):e1-e4. doi: 10.3949/ccjm.90.e-s1.01. PMID: 37225259
Ahmad SB, Bomback AS
Adv Chronic Kidney Dis 2020 Mar;27(2):104-110. doi: 10.1053/j.ackd.2019.12.003. PMID: 32553242
Schena FP, Esposito P, Rossini M
Int J Mol Sci 2020 Jan 14;21(2) doi: 10.3390/ijms21020525. PMID: 31947692Free PMC Article
Ito N, Ohashi R, Nagata M
Clin Exp Nephrol 2017 Aug;21(4):541-551. Epub 2016 Nov 23 doi: 10.1007/s10157-016-1358-5. PMID: 27878657Free PMC Article
Servais A, Noël LH, Frémeaux-Bacchi V, Lesavre P
Contrib Nephrol 2013;181:185-93. Epub 2013 May 8 doi: 10.1159/000348654. PMID: 23689580

Prognosis

Mehdi A, Taliercio JJ
Cleve Clin J Med 2023 May 24;90(6 suppl 1):e1-e4. doi: 10.3949/ccjm.90.e-s1.01. PMID: 37225259
Ahmad SB, Bomback AS
Adv Chronic Kidney Dis 2020 Mar;27(2):104-110. doi: 10.1053/j.ackd.2019.12.003. PMID: 32553242
Caravaca-Fontán F, Lucientes L, Cavero T, Praga M
Nephron 2020;144(6):272-280. Epub 2020 May 5 doi: 10.1159/000507254. PMID: 32369815
Kaartinen K, Safa A, Kotha S, Ratti G, Meri S
Semin Immunol 2019 Oct;45:101331. Epub 2019 Nov 9 doi: 10.1016/j.smim.2019.101331. PMID: 31711769
Floege J, Amann K
Lancet 2016 May 14;387(10032):2036-48. Epub 2016 Feb 25 doi: 10.1016/S0140-6736(16)00272-5. PMID: 26921911

Clinical prediction guides

Schena FP, Esposito P, Rossini M
Int J Mol Sci 2020 Jan 14;21(2) doi: 10.3390/ijms21020525. PMID: 31947692Free PMC Article
Bomback AS, Santoriello D, Avasare RS, Regunathan-Shenk R, Canetta PA, Ahn W, Radhakrishnan J, Marasa M, Rosenstiel PE, Herlitz LC, Markowitz GS, D'Agati VD, Appel GB
Kidney Int 2018 Apr;93(4):977-985. Epub 2018 Jan 6 doi: 10.1016/j.kint.2017.10.022. PMID: 29310824
Ito N, Ohashi R, Nagata M
Clin Exp Nephrol 2017 Aug;21(4):541-551. Epub 2016 Nov 23 doi: 10.1007/s10157-016-1358-5. PMID: 27878657Free PMC Article
Nester CM, Smith RJ
Semin Immunol 2016 Jun;28(3):241-9. Epub 2016 Jul 9 doi: 10.1016/j.smim.2016.06.002. PMID: 27402056
Xiao X, Pickering MC, Smith RJ
Semin Thromb Hemost 2014 Jun;40(4):465-71. Epub 2014 May 5 doi: 10.1055/s-0034-1376334. PMID: 24799308

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