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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
Remport A, Ivanyi B, Mathe Z, Tinckam K, Mucsi I, Molnar MZ
Nephrol Dial Transplant 2015 Nov;30(11):1825-33. Epub 2014 Dec 3 doi: 10.1093/ndt/gfu371. PMID: 25473123
Tsuboi N, Utsunomiya Y, Hosoya T
Nephrol Dial Transplant 2013 Nov;28 Suppl 4:iv108-13. Epub 2013 Jul 17 doi: 10.1093/ndt/gft258. PMID: 23868145
Fakhouri F, Frémeaux-Bacchi V, Noël LH, Cook HT, Pickering MC
Nat Rev Nephrol 2010 Aug;6(8):494-9. Epub 2010 Jul 6 doi: 10.1038/nrneph.2010.85. PMID: 20606628
Lemley KV
Pediatr Nephrol 2009 Dec;24(12):2345-54. Epub 2008 Jun 6 doi: 10.1007/s00467-008-0836-8. PMID: 18535845Free PMC Article

Diagnosis

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
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
Kambham N
Adv Anat Pathol 2012 Sep;19(5):338-47. doi: 10.1097/PAP.0b013e31826663d9. PMID: 22885383
Vehaskari VM
Adv Chronic Kidney Dis 2011 Sep;18(5):317-23. doi: 10.1053/j.ackd.2011.07.001. PMID: 21896372
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

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
Sofue T, Suzuki H, Ueda N, Kushida Y, Minamino T
Nephrology (Carlton) 2018 Jul;23 Suppl 2:4-9. doi: 10.1111/nep.13281. PMID: 29968406
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
Noone D, Licht C
Pediatr Nephrol 2013 Jul;28(7):1025-36. Epub 2012 Aug 18 doi: 10.1007/s00467-012-2272-z. PMID: 22903660

Prognosis

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
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
Vehaskari VM
Adv Chronic Kidney Dis 2011 Sep;18(5):317-23. doi: 10.1053/j.ackd.2011.07.001. PMID: 21896372

Clinical prediction guides

Clair G, Soloyan H, Cravedi P, Angeletti A, Salem F, Al-Rabadi L, De Filippo RE, Da Sacco S, Lemley KV, Sedrakyan S, Perin L
JCI Insight 2024 Mar 22;9(6) doi: 10.1172/jci.insight.165515. PMID: 38516889Free PMC Article
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
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
Sahali D, Sendeyo K, Mangier M, Audard V, Zhang SY, Lang P, Ollero M, Pawlak A
Semin Immunopathol 2014 Jul;36(4):421-9. Epub 2014 Jan 9 doi: 10.1007/s00281-013-0415-3. PMID: 24402710Free 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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