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IgA nephropathy, susceptibility to, 3(IGAN3)

MedGen UID:
897340
Concept ID:
C4225194
Finding
Synonym: IGAN3
 
Gene (location): SPRY2 (13q31.1)
 
Monarch Initiative: MONDO:0014786
OMIM®: 616818

Definition

Any IgA glomerulonephritis in which the cause of the disease is a mutation in the SPRY2 gene. [from MONDO]

Clinical features

From HPO
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).
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
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.
IgA deposition in the glomerulus
MedGen UID:
892365
Concept ID:
C4025827
Finding
The presence of immunoglobulin A deposits in the glomerulus.
Mesangial hypercellularity
MedGen UID:
924090
Concept ID:
C4281741
Cell or Molecular Dysfunction
Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.

Professional guidelines

PubMed

Smeijer JD, Kohan DE, Webb DJ, Dhaun N, Heerspink HJL
Curr Opin Nephrol Hypertens 2021 Jul 1;30(4):456-465. doi: 10.1097/MNH.0000000000000716. PMID: 33990507
Schena FP, Sallustio F, Serino G
Clin Sci (Lond) 2015 Jun;128(11):775-88. doi: 10.1042/CS20140733. PMID: 25881669
Xie Y, Chen X
Am J Nephrol 2008;28(1):1-7. Epub 2007 Sep 20 doi: 10.1159/000108755. PMID: 17890852

Recent clinical studies

Etiology

Wang YN, Gan T, Qu S, Xu LL, Hu Y, Liu LJ, Shi SF, Lv JC, Tsoi LC, Patrick MT, He K, Berthier CC, Xu HJ, Zhou XJ, Zhang H
Kidney Int 2023 Sep;104(3):562-576. Epub 2023 Jul 4 doi: 10.1016/j.kint.2023.06.018. PMID: 37414396
Moscvin M, Liacos CI, Chen T, Theodorakakou F, Fotiou D, Hossain S, Rowell S, Leblebjian H, Regan E, Czarnecki P, Bagnoli F, Bolli N, Richardson P, Rennke HG, Dimopoulos MA, Kastritis E, Bianchi G
Blood Cancer J 2023 Feb 27;13(1):31. doi: 10.1038/s41408-023-00802-0. PMID: 36849497Free PMC Article
Vasconcelos AS, Mazzali M, de Sousa MV
J Bras Nefrol 2023 Jul-Sep;45(3):350-356. doi: 10.1590/2175-8239-JBN-2022-0051en. PMID: 36626310Free PMC Article
Sanchez-Rodriguez E, Southard CT, Kiryluk K
Clin J Am Soc Nephrol 2021 Mar 8;16(3):458-466. Epub 2020 Jul 17 doi: 10.2215/CJN.14031119. PMID: 32680915Free PMC Article
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

Moscvin M, Liacos CI, Chen T, Theodorakakou F, Fotiou D, Hossain S, Rowell S, Leblebjian H, Regan E, Czarnecki P, Bagnoli F, Bolli N, Richardson P, Rennke HG, Dimopoulos MA, Kastritis E, Bianchi G
Blood Cancer J 2023 Feb 27;13(1):31. doi: 10.1038/s41408-023-00802-0. PMID: 36849497Free PMC Article
Vasconcelos AS, Mazzali M, de Sousa MV
J Bras Nefrol 2023 Jul-Sep;45(3):350-356. doi: 10.1590/2175-8239-JBN-2022-0051en. PMID: 36626310Free PMC Article
Sanchez-Rodriguez E, Southard CT, Kiryluk K
Clin J Am Soc Nephrol 2021 Mar 8;16(3):458-466. Epub 2020 Jul 17 doi: 10.2215/CJN.14031119. PMID: 32680915Free PMC Article
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
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

Wang YN, Gan T, Qu S, Xu LL, Hu Y, Liu LJ, Shi SF, Lv JC, Tsoi LC, Patrick MT, He K, Berthier CC, Xu HJ, Zhou XJ, Zhang H
Kidney Int 2023 Sep;104(3):562-576. Epub 2023 Jul 4 doi: 10.1016/j.kint.2023.06.018. PMID: 37414396
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
Vasconcelos AS, Mazzali M, de Sousa MV
J Bras Nefrol 2023 Jul-Sep;45(3):350-356. doi: 10.1590/2175-8239-JBN-2022-0051en. PMID: 36626310Free PMC Article
Sanchez-Rodriguez E, Southard CT, Kiryluk K
Clin J Am Soc Nephrol 2021 Mar 8;16(3):458-466. Epub 2020 Jul 17 doi: 10.2215/CJN.14031119. PMID: 32680915Free PMC Article
Cook HT
Curr Opin Nephrol Hypertens 2013 May;22(3):295-301. doi: 10.1097/MNH.0b013e32835ff9cb. PMID: 23508058

Prognosis

Kang Y, Xu B, Shi S, Zhou X, Chen P, Liu L, Li Y, Leng Y, Lv J, Zhu L, Zhang H
Clin J Am Soc Nephrol 2023 Dec 1;18(12):1583-1591. Epub 2023 Aug 31 doi: 10.2215/CJN.0000000000000290. PMID: 37651123Free PMC Article
Sanchez-Rodriguez E, Southard CT, Kiryluk K
Clin J Am Soc Nephrol 2021 Mar 8;16(3):458-466. Epub 2020 Jul 17 doi: 10.2215/CJN.14031119. PMID: 32680915Free PMC Article
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
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
Brenchley PE, Poulton K, Morton M, Picton ML
Transplant Rev (Orlando) 2014 Jul;28(3):140-4. Epub 2014 Jan 27 doi: 10.1016/j.trre.2014.01.004. PMID: 24630158

Clinical prediction guides

Kang Y, Xu B, Shi S, Zhou X, Chen P, Liu L, Li Y, Leng Y, Lv J, Zhu L, Zhang H
Clin J Am Soc Nephrol 2023 Dec 1;18(12):1583-1591. Epub 2023 Aug 31 doi: 10.2215/CJN.0000000000000290. PMID: 37651123Free PMC Article
Wang YN, Gan T, Qu S, Xu LL, Hu Y, Liu LJ, Shi SF, Lv JC, Tsoi LC, Patrick MT, He K, Berthier CC, Xu HJ, Zhou XJ, Zhang H
Kidney Int 2023 Sep;104(3):562-576. Epub 2023 Jul 4 doi: 10.1016/j.kint.2023.06.018. PMID: 37414396
Vasconcelos AS, Mazzali M, de Sousa MV
J Bras Nefrol 2023 Jul-Sep;45(3):350-356. doi: 10.1590/2175-8239-JBN-2022-0051en. PMID: 36626310Free PMC Article
Sanchez-Rodriguez E, Southard CT, Kiryluk K
Clin J Am Soc Nephrol 2021 Mar 8;16(3):458-466. Epub 2020 Jul 17 doi: 10.2215/CJN.14031119. PMID: 32680915Free PMC Article
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

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