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Abnormal renal glomerulus morphology

MedGen UID:
871392
Concept ID:
C4025889
Anatomical Abnormality
Synonyms: Abnormality of renal glomerulus morphology; Morphologic abnormality of the renal glomerulus
 
HPO: HP:0000095

Definition

A structural anomaly of the glomerulus. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal renal glomerulus morphology

Conditions with this feature

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
MedGen UID:
1373459
Concept ID:
C4317151
Disease or Syndrome
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).

Professional guidelines

PubMed

Petrazzuolo A, Sabiu G, Assi E, Maestroni A, Pastore I, Lunati ME, Montefusco L, Loretelli C, Rossi G, Ben Nasr M, Usuelli V, Xie Y, Balasubramanian HB, Zocchi M, El Essawy B, Yang J, D'Addio F, Fiorina P
Pharmacol Res 2023 Apr;190:106710. Epub 2023 Mar 4 doi: 10.1016/j.phrs.2023.106710. PMID: 36871895
Noris M, Daina E, Remuzzi G
Nephrol Dial Transplant 2023 Feb 13;38(2):283-290. doi: 10.1093/ndt/gfab281. PMID: 34596686
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F
Nat Genet 2017 Oct;49(10):1529-1538. Epub 2017 Aug 14 doi: 10.1038/ng.3933. PMID: 28805828Free PMC Article

Recent clinical studies

Etiology

Pattrapornpisut P, Avila-Casado C, Reich HN
Am J Kidney Dis 2021 Sep;78(3):429-441. Epub 2021 Jul 9 doi: 10.1053/j.ajkd.2021.01.024. PMID: 34247883
Plevová P, Gut J, Janda J
Medicina (Kaunas) 2017;53(1):1-10. Epub 2017 Jan 31 doi: 10.1016/j.medici.2017.01.002. PMID: 28236514
Silvariño R, Noboa O, Cervera R
Isr Med Assoc J 2014 Nov;16(11):727-32. PMID: 25558706
Powell DW, Kenagy DN, Zheng S, Coventry SC, Xu J, Cai L, Carlson EC, Epstein PN
Life Sci 2013 Aug 28;93(7):257-64. Epub 2013 Jun 22 doi: 10.1016/j.lfs.2013.06.016. PMID: 23800643Free PMC Article
Rankin JA, Matthay RA
Yale J Biol Med 1982 Jan-Feb;55(1):11-26. PMID: 6810558Free PMC Article

Diagnosis

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
Noris M, Daina E, Remuzzi G
Nephrol Dial Transplant 2023 Feb 13;38(2):283-290. doi: 10.1093/ndt/gfab281. PMID: 34596686
Pattrapornpisut P, Avila-Casado C, Reich HN
Am J Kidney Dis 2021 Sep;78(3):429-441. Epub 2021 Jul 9 doi: 10.1053/j.ajkd.2021.01.024. PMID: 34247883
Hudson BG, Tryggvason K, Sundaramoorthy M, Neilson EG
N Engl J Med 2003 Jun 19;348(25):2543-56. doi: 10.1056/NEJMra022296. PMID: 12815141
Mogensen CE, Christensen CK, Vittinghus E
Diabetes 1983 May;32 Suppl 2:64-78. doi: 10.2337/diab.32.2.s64. PMID: 6400670

Therapy

Pattrapornpisut P, Avila-Casado C, Reich HN
Am J Kidney Dis 2021 Sep;78(3):429-441. Epub 2021 Jul 9 doi: 10.1053/j.ajkd.2021.01.024. PMID: 34247883
DeFronzo RA, Reeves WB, Awad AS
Nat Rev Nephrol 2021 May;17(5):319-334. Epub 2021 Feb 5 doi: 10.1038/s41581-021-00393-8. PMID: 33547417
Prakoura N, Kavvadas P, Chadjichristos CE
Cell Physiol Biochem 2018;49(3):985. Epub 2018 Sep 7 doi: 10.1159/000493230. PMID: 30196298
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
Silvariño R, Noboa O, Cervera R
Isr Med Assoc J 2014 Nov;16(11):727-32. PMID: 25558706

Prognosis

Noris M, Daina E, Remuzzi G
Nephrol Dial Transplant 2023 Feb 13;38(2):283-290. doi: 10.1093/ndt/gfab281. PMID: 34596686
Pattrapornpisut P, Avila-Casado C, Reich HN
Am J Kidney Dis 2021 Sep;78(3):429-441. Epub 2021 Jul 9 doi: 10.1053/j.ajkd.2021.01.024. PMID: 34247883
Kopp JB, Anders HJ, Susztak K, Podestà MA, Remuzzi G, Hildebrandt F, Romagnani P
Nat Rev Dis Primers 2020 Aug 13;6(1):68. doi: 10.1038/s41572-020-0196-7. PMID: 32792490Free PMC Article
Witzgall R
Pflugers Arch 2017 Aug;469(7-8):927-936. Epub 2017 Jul 5 doi: 10.1007/s00424-017-2013-z. PMID: 28681095
D'Amico G, Bazzi C
Kidney Int 2003 Mar;63(3):809-25. doi: 10.1046/j.1523-1755.2003.00840.x. PMID: 12631062

Clinical prediction guides

Pattrapornpisut P, Avila-Casado C, Reich HN
Am J Kidney Dis 2021 Sep;78(3):429-441. Epub 2021 Jul 9 doi: 10.1053/j.ajkd.2021.01.024. PMID: 34247883
Petrosyan A, Cravedi P, Villani V, Angeletti A, Manrique J, Renieri A, De Filippo RE, Perin L, Da Sacco S
Nat Commun 2019 Aug 13;10(1):3656. doi: 10.1038/s41467-019-11577-z. PMID: 31409793Free PMC Article
Plevová P, Gut J, Janda J
Medicina (Kaunas) 2017;53(1):1-10. Epub 2017 Jan 31 doi: 10.1016/j.medici.2017.01.002. PMID: 28236514
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
D'Amico G, Bazzi C
Kidney Int 2003 Mar;63(3):809-25. doi: 10.1046/j.1523-1755.2003.00840.x. PMID: 12631062

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