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Familial immunoglobulin A nephropathy

MedGen UID:
753809
•Concept ID:
C2919502
•
Disease or Syndrome
Synonyms: Familial immunoglobulin A (IgA) nephropathy; IgA Nephropathy, Familal
SNOMED CT: Familial immunoglobulin A (IgA) nephropathy (445404003); Familial immunoglobulin A nephropathy (445404003)

Definition

IgA nephropathy secondary to a genetic mutation that is transmitted from parents to offspring. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial immunoglobulin A nephropathy

Professional guidelines

PubMed

Guidelines for Genetic Testing and Management of Alport Syndrome.
Savige J, Lipska-Zietkiewicz BS, Watson E, Hertz JM, Deltas C, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Renieri A, Storey H, Flinter F
Clin J Am Soc Nephrol 2022 Jan;17(1):143-154. Epub 2021 Dec 20 doi: 10.2215/CJN.04230321. PMID: 34930753Free PMC Article
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Lipska-Ziętkiewicz BS
Eur J Hum Genet 2021 Aug;29(8):1186-1197. Epub 2021 Apr 15 doi: 10.1038/s41431-021-00858-1. PMID: 33854215Free PMC Article
Glomerulonephritis--management in general practice.
Isbel NM
Aust Fam Physician 2005 Nov;34(11):907-13. PMID: 16299623

Recent clinical studies

Etiology

Guidelines for Genetic Testing and Management of Alport Syndrome.
Savige J, Lipska-Zietkiewicz BS, Watson E, Hertz JM, Deltas C, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Renieri A, Storey H, Flinter F
Clin J Am Soc Nephrol 2022 Jan;17(1):143-154. Epub 2021 Dec 20 doi: 10.2215/CJN.04230321. PMID: 34930753Free PMC Article
Genetic study of immunoglobulin A nephropathy: From research to clinical application.
Li M, Yu X
Nephrology (Carlton) 2018 Oct;23 Suppl 4:26-31. doi: 10.1111/nep.13470. PMID: 30298665
Genetic Determinants of IgA Nephropathy: Western Perspective.
Neugut YD, Kiryluk K
Semin Nephrol 2018 Sep;38(5):443-454. doi: 10.1016/j.semnephrol.2018.05.014. PMID: 30177016
Long-Term Exposure to Air Pollution and Increased Risk of Membranous Nephropathy in China.
Xu X, Wang G, Chen N, Lu T, Nie S, Xu G, Zhang P, Luo Y, Wang Y, Wang X, Schwartz J, Geng J, Hou FF
J Am Soc Nephrol 2016 Dec;27(12):3739-3746. Epub 2016 Jun 30 doi: 10.1681/ASN.2016010093. PMID: 27365535Free PMC Article
Complement and kidney disease.
Cook HT
Curr Opin Nephrol Hypertens 2013 May;22(3):295-301. doi: 10.1097/MNH.0b013e32835ff9cb. PMID: 23508058

Diagnosis

Concurrent fabry disease and immunoglobulin a nephropathy: a case report.
Zhou LN, Dong SS, Zhang SZ, Huang LW, Huang W
BMC Nephrol 2023 Nov 1;24(1):324. doi: 10.1186/s12882-023-03282-3. PMID: 37914990Free PMC Article
Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients.
Yuan X, Su Q, Wang H, Shi S, Liu L, Lv J, Wang S, Zhu L, Zhang H
J Am Soc Nephrol 2023 Jan 1;34(1):132-144. Epub 2022 Oct 5 doi: 10.1681/ASN.2021111447. PMID: 36130833Free PMC Article
Guidelines for Genetic Testing and Management of Alport Syndrome.
Savige J, Lipska-Zietkiewicz BS, Watson E, Hertz JM, Deltas C, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Renieri A, Storey H, Flinter F
Clin J Am Soc Nephrol 2022 Jan;17(1):143-154. Epub 2021 Dec 20 doi: 10.2215/CJN.04230321. PMID: 34930753Free PMC Article
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Lipska-Ziętkiewicz BS
Eur J Hum Genet 2021 Aug;29(8):1186-1197. Epub 2021 Apr 15 doi: 10.1038/s41431-021-00858-1. PMID: 33854215Free PMC Article
Autophagy in Immune-Related Renal Disease.
Ye X, Zhou XJ, Zhang H
J Immunol Res 2019;2019:5071687. Epub 2019 Nov 7 doi: 10.1155/2019/5071687. PMID: 31815154Free PMC Article

Therapy

Probiotics ameliorate IgA nephropathy by improving gut dysbiosis and blunting NLRP3 signaling.
Tan J, Dong L, Jiang Z, Tan L, Luo X, Pei G, Qin A, Zhong Z, Liu X, Tang Y, Qin W
J Transl Med 2022 Aug 29;20(1):382. doi: 10.1186/s12967-022-03585-3. PMID: 36038927Free PMC Article
Histone deacetylase 10, a potential epigenetic target for therapy.
Cheng F, Zheng B, Wang J, Zhao G, Yao Z, Niu Z, He W
Biosci Rep 2021 Jun 25;41(6) doi: 10.1042/BSR20210462. PMID: 33997894Free PMC Article
Familial mediterranean fever and immunoglobulin A nephropathy: A case report and review of the literature.
Yılmaz F, Keleş M
Saudi J Kidney Dis Transpl 2020 Mar-Apr;31(2):537-541. doi: 10.4103/1319-2442.284033. PMID: 32394931
Long-Term Exposure to Air Pollution and Increased Risk of Membranous Nephropathy in China.
Xu X, Wang G, Chen N, Lu T, Nie S, Xu G, Zhang P, Luo Y, Wang Y, Wang X, Schwartz J, Geng J, Hou FF
J Am Soc Nephrol 2016 Dec;27(12):3739-3746. Epub 2016 Jun 30 doi: 10.1681/ASN.2016010093. PMID: 27365535Free PMC Article
Complement and kidney disease.
Cook HT
Curr Opin Nephrol Hypertens 2013 May;22(3):295-301. doi: 10.1097/MNH.0b013e32835ff9cb. PMID: 23508058

Prognosis

New COL4A5 mutation in IgA nephropathy.
Xu Z, Chen J, Yu W, Li X, Lin B, Lai D, Xu A, Tang Y
Postgrad Med J 2022 Jan;98(1155):13-17. Epub 2020 Oct 21 doi: 10.1136/postgradmedj-2020-138625. PMID: 33087535
Amyloidosis and Glomerular Diseases in Familial Mediterranean Fever.
Siligato R, Gembillo G, Calabrese V, Conti G, Santoro D
Medicina (Kaunas) 2021 Oct 1;57(10) doi: 10.3390/medicina57101049. PMID: 34684086Free PMC Article
Genetic study of immunoglobulin A nephropathy: From research to clinical application.
Li M, Yu X
Nephrology (Carlton) 2018 Oct;23 Suppl 4:26-31. doi: 10.1111/nep.13470. PMID: 30298665
Evaluation of hematuria in children.
Meyers KE
Urol Clin North Am 2004 Aug;31(3):559-73, x. doi: 10.1016/j.ucl.2004.04.015. PMID: 15313065
Thin basement membrane nephropathy.
Savige J, Rana K, Tonna S, Buzza M, Dagher H, Wang YY
Kidney Int 2003 Oct;64(4):1169-78. doi: 10.1046/j.1523-1755.2003.00234.x. PMID: 12969134

Clinical prediction guides

Concurrent fabry disease and immunoglobulin a nephropathy: a case report.
Zhou LN, Dong SS, Zhang SZ, Huang LW, Huang W
BMC Nephrol 2023 Nov 1;24(1):324. doi: 10.1186/s12882-023-03282-3. PMID: 37914990Free PMC Article
Amyloidosis and Glomerular Diseases in Familial Mediterranean Fever.
Siligato R, Gembillo G, Calabrese V, Conti G, Santoro D
Medicina (Kaunas) 2021 Oct 1;57(10) doi: 10.3390/medicina57101049. PMID: 34684086Free PMC Article
Autophagy in Immune-Related Renal Disease.
Ye X, Zhou XJ, Zhang H
J Immunol Res 2019;2019:5071687. Epub 2019 Nov 7 doi: 10.1155/2019/5071687. PMID: 31815154Free PMC Article
Clinical Heterogeneity in Familial IgA Nephropathy.
Fennelly NK, Kennedy C, Jenkinson AC, Connaughton DM, Stapleton C, Dorman AM, Doyle B, Conlon PJ
Nephron 2018;139(1):63-69. Epub 2018 Jan 19 doi: 10.1159/000486018. PMID: 29402819
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

Coronavirus disease 2019, vaccination against coronavirus and immunoglobulin A-mediated diseases: systematic literature review.
Bronz G, Faré PB, Lava SAG, Bianchetti MG, Simonetti GD, Scoglio M, Beretta-Piccoli BT, Agostoni C, Milani GP
J Autoimmun 2022 Oct;132:102899. Epub 2022 Aug 22 doi: 10.1016/j.jaut.2022.102899. PMID: 36108473Free PMC Article
Gut Microbiome Characteristics in IgA Nephropathy: Qualitative and Quantitative Analysis from Observational Studies.
Han S, Shang L, Lu Y, Wang Y
Front Cell Infect Microbiol 2022;12:904401. Epub 2022 May 17 doi: 10.3389/fcimb.2022.904401. PMID: 35656030Free PMC Article

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