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IgA nephropathy, susceptibility to, 2(IGAN2)

MedGen UID:
462728
•Concept ID:
C3151378
•
Finding
Synonyms: IgA nephropathy 2; IGAN2
 
Monarch Initiative: MONDO:0013496
OMIM®: 613944

Clinical features

From HPO
Arthralgia
MedGen UID:
13917
•Concept ID:
C0003862
•
Sign or Symptom
Joint pain.
See: Feature record | Search on this feature
Hematuria
MedGen UID:
5488
•Concept ID:
C0018965
•
Disease or Syndrome
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
See: Feature record | Search on this feature
Proteinuria
MedGen UID:
10976
•Concept ID:
C0033687
•
Finding
Increased levels of protein in the urine.
See: Feature record | Search on this feature
Stage 5 chronic kidney disease
MedGen UID:
384526
•Concept ID:
C2316810
•
Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
See: Feature record | Search on this feature
IgA deposition in the glomerulus
MedGen UID:
892365
•Concept ID:
C4025827
•
Finding
The presence of immunoglobulin A deposits in the glomerulus.
See: Feature record | Search on this feature
Hypertensive disorder
MedGen UID:
6969
•Concept ID:
C0020538
•
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
See: Feature record | Search on this feature
Nephritis
MedGen UID:
14328
•Concept ID:
C0027697
•
Disease or Syndrome
The presence of inflammation affecting the kidney.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

FcgammaRIIa-131R allele and FcgammaRIIIa-176V/V genotype are risk factors for progression of IgA nephropathy.
Tanaka Y, Suzuki Y, Tsuge T, Kanamaru Y, Horikoshi S, Monteiro RC, Tomino Y
Nephrol Dial Transplant 2005 Nov;20(11):2439-45. doi: 10.1093/ndt/gfi043. PMID: 16221721
The nephropathies of HIV infection: pathogenesis and treatment.
Kimmel PL
Curr Opin Nephrol Hypertens 2000 Mar;9(2):117-22. doi: 10.1097/00041552-200003000-00004. PMID: 10757215

Recent clinical studies

Etiology

Genome-Wide Association Analysis of Protein-Coding Variants in IgA Nephropathy.
Li M, Wang YN, Wang L, Meah WY, Shi DC, Heng KK, Wang L, Khor CC, Bei JX, Cheng CY, Aung T, Liao YH, Chen QK, Gu JR, Kong YZ, Lee J, Chong SA, Subramaniam M, Foo JN, Cai FT, Jiang GR, Xu G, Wan JX, Chen MH, Yin PR, Dong XQ, Feng SZ, Tang XQ, Zhong Z, Tan EK, Chen N, Zhang H, Liu ZH, Tai ES, Liu JJ, Yu XQ
J Am Soc Nephrol 2023 Nov 1;34(11):1900-1913. Epub 2023 Oct 2 doi: 10.1681/ASN.0000000000000222. PMID: 37787447Free PMC Article
Exploring genes for immunoglobulin A nephropathy: a summary data-based mendelian randomization and FUMA analysis.
Zhang Q, Zhang K, Zhu Y, Yuan G, Yang J, Zhang M
BMC Med Genomics 2023 Jan 29;16(1):16. doi: 10.1186/s12920-023-01436-8. PMID: 36709307Free PMC Article
Title IgA Nephropathy and Oral Bacterial Species Related to Dental Caries and Periodontitis.
Nagasawa Y, Misaki T, Ito S, Naka S, Wato K, Nomura R, Matsumoto-Nakano M, Nakano K
Int J Mol Sci 2022 Jan 10;23(2) doi: 10.3390/ijms23020725. PMID: 35054910Free PMC Article
IgA Nephropathy Susceptibility Loci and Disease Progression.
Shi M, Ouyang Y, Yang M, Yang M, Zhang X, Huang W, Wang W, Wang Z, Zhang W, Chen X, Pan X, Ren H, Chen N, Xie J
Clin J Am Soc Nephrol 2018 Sep 7;13(9):1330-1338. Epub 2018 Jul 24 doi: 10.2215/CJN.13701217. PMID: 30042224Free PMC Article
The pathophysiology of IgA nephropathy.
Suzuki H, Kiryluk K, Novak J, Moldoveanu Z, Herr AB, Renfrow MB, Wyatt RJ, Scolari F, Mestecky J, Gharavi AG, Julian BA
J Am Soc Nephrol 2011 Oct;22(10):1795-803. Epub 2011 Sep 23 doi: 10.1681/ASN.2011050464. PMID: 21949093Free PMC Article

Diagnosis

Title IgA Nephropathy and Oral Bacterial Species Related to Dental Caries and Periodontitis.
Nagasawa Y, Misaki T, Ito S, Naka S, Wato K, Nomura R, Matsumoto-Nakano M, Nakano K
Int J Mol Sci 2022 Jan 10;23(2) doi: 10.3390/ijms23020725. PMID: 35054910Free PMC Article
Interaction between GALNT12 and C1GALT1 Associates with Galactose-Deficient IgA1 and IgA Nephropathy.
Wang YN, Zhou XJ, Chen P, Yu GZ, Zhang X, Hou P, Liu LJ, Shi SF, Lv JC, Zhang H
J Am Soc Nephrol 2021 Mar;32(3):545-552. Epub 2021 Feb 16 doi: 10.1681/ASN.2020060823. PMID: 33593824Free PMC Article
Immunoglobulin A nephropathy: current progress and future directions.
Zhang C, Zeng X, Li Z, Wang Z, Li S
Transl Res 2015 Aug;166(2):134-44. Epub 2015 Mar 4 doi: 10.1016/j.trsl.2015.02.007. PMID: 25797891
Current Understanding of the Role of Complement in IgA Nephropathy.
Maillard N, Wyatt RJ, Julian BA, Kiryluk K, Gharavi A, Fremeaux-Bacchi V, Novak J
J Am Soc Nephrol 2015 Jul;26(7):1503-12. Epub 2015 Feb 18 doi: 10.1681/ASN.2014101000. PMID: 25694468Free PMC Article
Pathogenesis of IgA nephropathy.
Wada J, Sugiyama H, Makino H
Semin Nephrol 2003 Nov;23(6):556-63. doi: 10.1053/s0270-9295(03)00134-7. PMID: 14631563

Therapy

Interleukin Variants Are Associated with the Development and Progression of IgA Nephropathy: A Candidate-Gene Association Study and Meta-Analysis.
Chronopoulou I, Tziastoudi M, Pissas G, Dardiotis E, Dardioti M, Golfinopoulos S, Filippidis G, Mertens PR, Tsironi EE, Liakopoulos V, Eleftheriadis T, Stefanidis I
Int J Mol Sci 2023 Nov 15;24(22) doi: 10.3390/ijms242216347. PMID: 38003536Free PMC Article
Exploring genes for immunoglobulin A nephropathy: a summary data-based mendelian randomization and FUMA analysis.
Zhang Q, Zhang K, Zhu Y, Yuan G, Yang J, Zhang M
BMC Med Genomics 2023 Jan 29;16(1):16. doi: 10.1186/s12920-023-01436-8. PMID: 36709307Free PMC Article
Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits.
Liu L, Khan A, Sanchez-Rodriguez E, Zanoni F, Li Y, Steers N, Balderes O, Zhang J, Krithivasan P, LeDesma RA, Fischman C, Hebbring SJ, Harley JB, Moncrieffe H, Kottyan LC, Namjou-Khales B, Walunas TL, Knevel R, Raychaudhuri S, Karlson EW, Denny JC, Stanaway IB, Crosslin D, Rauen T, Floege J, Eitner F, Moldoveanu Z, Reily C, Knoppova B, Hall S, Sheff JT, Julian BA, Wyatt RJ, Suzuki H, Xie J, Chen N, Zhou X, Zhang H, Hammarström L, Viktorin A, Magnusson PKE, Shang N, Hripcsak G, Weng C, Rundek T, Elkind MSV, Oelsner EC, Barr RG, Ionita-Laza I, Novak J, Gharavi AG, Kiryluk K
Nat Commun 2022 Nov 11;13(1):6859. doi: 10.1038/s41467-022-34456-6. PMID: 36369178Free PMC Article
Association of ITGAX and ITGAM gene polymorphisms with susceptibility to IgA nephropathy.
Shi D, Zhong Z, Xu R, Li B, Li J, Habib U, Peng Y, Mao H, Li Z, Huang F, Yu X, Li M
J Hum Genet 2019 Sep;64(9):927-935. Epub 2019 Jun 21 doi: 10.1038/s10038-019-0632-2. PMID: 31227791
The molecular pathogenesis and experimental therapy of IgA nephropathy: recent advances and future directions.
Hsu SI
Curr Mol Med 2001 May;1(2):183-96. doi: 10.2174/1566524013363852. PMID: 11899070

Prognosis

IgA Nephropathy Susceptibility Loci and Disease Progression.
Shi M, Ouyang Y, Yang M, Yang M, Zhang X, Huang W, Wang W, Wang Z, Zhang W, Chen X, Pan X, Ren H, Chen N, Xie J
Clin J Am Soc Nephrol 2018 Sep 7;13(9):1330-1338. Epub 2018 Jul 24 doi: 10.2215/CJN.13701217. PMID: 30042224Free PMC Article
The features in IgA-dominant infection-related glomerulonephritis distinct from IgA nephropathy: a single-center study.
Handa T, Kakita H, Tateishi Y, Endo T, Suzuki H, Katayama T, Tsukamoto T, Muso E
Clin Exp Nephrol 2018 Oct;22(5):1116-1127. Epub 2018 Mar 21 doi: 10.1007/s10157-018-1564-4. PMID: 29564665
Immunoglobulin A nephropathy: current progress and future directions.
Zhang C, Zeng X, Li Z, Wang Z, Li S
Transl Res 2015 Aug;166(2):134-44. Epub 2015 Mar 4 doi: 10.1016/j.trsl.2015.02.007. PMID: 25797891
Current Understanding of the Role of Complement in IgA Nephropathy.
Maillard N, Wyatt RJ, Julian BA, Kiryluk K, Gharavi A, Fremeaux-Bacchi V, Novak J
J Am Soc Nephrol 2015 Jul;26(7):1503-12. Epub 2015 Feb 18 doi: 10.1681/ASN.2014101000. PMID: 25694468Free PMC Article
Pathogenesis of immunoglobulin A nephropathy.
Novak J, Renfrow MB, Gharavi AG, Julian BA
Curr Opin Nephrol Hypertens 2013 May;22(3):287-94. doi: 10.1097/MNH.0b013e32835fef54. PMID: 23511518

Clinical prediction guides

Segregation analysis identifies specific alpha-defensin (DEFA1A3) SNP-CNV haplotypes in predisposition to IgA nephropathy.
Shwan NAA, Moise EC, Necsoiu PE, Farr AJ, Gale DP, Barratt J, Armour JAL
Ann Hum Genet 2023 Mar;87(1-2):1-8. Epub 2022 Oct 10 doi: 10.1111/ahg.12481. PMID: 36214424
Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits.
Liu L, Khan A, Sanchez-Rodriguez E, Zanoni F, Li Y, Steers N, Balderes O, Zhang J, Krithivasan P, LeDesma RA, Fischman C, Hebbring SJ, Harley JB, Moncrieffe H, Kottyan LC, Namjou-Khales B, Walunas TL, Knevel R, Raychaudhuri S, Karlson EW, Denny JC, Stanaway IB, Crosslin D, Rauen T, Floege J, Eitner F, Moldoveanu Z, Reily C, Knoppova B, Hall S, Sheff JT, Julian BA, Wyatt RJ, Suzuki H, Xie J, Chen N, Zhou X, Zhang H, Hammarström L, Viktorin A, Magnusson PKE, Shang N, Hripcsak G, Weng C, Rundek T, Elkind MSV, Oelsner EC, Barr RG, Ionita-Laza I, Novak J, Gharavi AG, Kiryluk K
Nat Commun 2022 Nov 11;13(1):6859. doi: 10.1038/s41467-022-34456-6. PMID: 36369178Free PMC Article
IgA Nephropathy Susceptibility Loci and Disease Progression.
Shi M, Ouyang Y, Yang M, Yang M, Zhang X, Huang W, Wang W, Wang Z, Zhang W, Chen X, Pan X, Ren H, Chen N, Xie J
Clin J Am Soc Nephrol 2018 Sep 7;13(9):1330-1338. Epub 2018 Jul 24 doi: 10.2215/CJN.13701217. PMID: 30042224Free PMC Article
Pathogenesis of immunoglobulin A nephropathy.
Novak J, Renfrow MB, Gharavi AG, Julian BA
Curr Opin Nephrol Hypertens 2013 May;22(3):287-94. doi: 10.1097/MNH.0b013e32835fef54. PMID: 23511518
Pathogenesis of IgA nephropathy.
Wada J, Sugiyama H, Makino H
Semin Nephrol 2003 Nov;23(6):556-63. doi: 10.1053/s0270-9295(03)00134-7. PMID: 14631563

Recent systematic reviews

Association of Immune and Inflammatory Gene Polymorphism With the Risk of IgA Nephropathy: A Systematic Review and Meta-Analysis of 45 Studies.
Ding X, Mei Y, Mao Z, Long L, Han Q, You Y, Zhu H
Front Immunol 2021;12:683913. Epub 2021 Jun 30 doi: 10.3389/fimmu.2021.683913. PMID: 34354705Free PMC Article

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