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Loss of glomerular endothelial cell fenestration

MedGen UID:
1780639
Concept ID:
C5539472
Finding
HPO: HP:0033273

Definition

Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLoss of glomerular endothelial cell fenestration

Recent clinical studies

Etiology

Wheelock KM, Saulnier PJ, Tanamas SK, Vijayakumar P, Weil EJ, Looker HC, Hanson RL, Lemley KV, Yee B, Knowler WC, Hadjadj S, Najafian B, Mauer M, Nelson RG
Nephrol Dial Transplant 2018 Jun 1;33(6):1001-1009. doi: 10.1093/ndt/gfx231. PMID: 28992267Free PMC Article
Fufaa GD, Weil EJ, Lemley KV, Knowler WC, Brosius FC 3rd, Yee B, Mauer M, Nelson RG
Clin J Am Soc Nephrol 2016 Feb 5;11(2):254-61. Epub 2016 Jan 20 doi: 10.2215/CJN.05760515. PMID: 26792530Free PMC Article

Diagnosis

Mii A, Terasaki M, Kunugi S, Seki M, Kashiwagi T, Sakai Y, Shimizu A
CEN Case Rep 2022 Aug;11(3):333-338. Epub 2022 Jan 13 doi: 10.1007/s13730-021-00676-w. PMID: 35025059Free PMC Article
Fufaa GD, Weil EJ, Lemley KV, Knowler WC, Brosius FC 3rd, Yee B, Mauer M, Nelson RG
Clin J Am Soc Nephrol 2016 Feb 5;11(2):254-61. Epub 2016 Jan 20 doi: 10.2215/CJN.05760515. PMID: 26792530Free PMC Article

Therapy

Shim J, Tochio A, Ueda N, Tsuji S, Koizumi M, Seta K, Yahata K
CEN Case Rep 2021 Nov;10(4):576-581. Epub 2021 May 25 doi: 10.1007/s13730-021-00610-0. PMID: 34033070Free PMC Article
Fufaa GD, Weil EJ, Lemley KV, Knowler WC, Brosius FC 3rd, Yee B, Mauer M, Nelson RG
Clin J Am Soc Nephrol 2016 Feb 5;11(2):254-61. Epub 2016 Jan 20 doi: 10.2215/CJN.05760515. PMID: 26792530Free PMC Article
Schrijvers BF, Flyvbjerg A, De Vriese AS
Kidney Int 2004 Jun;65(6):2003-17. doi: 10.1111/j.1523-1755.2004.00621.x. PMID: 15149314

Prognosis

Wheelock KM, Saulnier PJ, Tanamas SK, Vijayakumar P, Weil EJ, Looker HC, Hanson RL, Lemley KV, Yee B, Knowler WC, Hadjadj S, Najafian B, Mauer M, Nelson RG
Nephrol Dial Transplant 2018 Jun 1;33(6):1001-1009. doi: 10.1093/ndt/gfx231. PMID: 28992267Free PMC Article
Fufaa GD, Weil EJ, Lemley KV, Knowler WC, Brosius FC 3rd, Yee B, Mauer M, Nelson RG
Clin J Am Soc Nephrol 2016 Feb 5;11(2):254-61. Epub 2016 Jan 20 doi: 10.2215/CJN.05760515. PMID: 26792530Free PMC Article

Clinical prediction guides

Shim J, Tochio A, Ueda N, Tsuji S, Koizumi M, Seta K, Yahata K
CEN Case Rep 2021 Nov;10(4):576-581. Epub 2021 May 25 doi: 10.1007/s13730-021-00610-0. PMID: 34033070Free PMC Article
Wheelock KM, Saulnier PJ, Tanamas SK, Vijayakumar P, Weil EJ, Looker HC, Hanson RL, Lemley KV, Yee B, Knowler WC, Hadjadj S, Najafian B, Mauer M, Nelson RG
Nephrol Dial Transplant 2018 Jun 1;33(6):1001-1009. doi: 10.1093/ndt/gfx231. PMID: 28992267Free PMC Article
Fufaa GD, Weil EJ, Lemley KV, Knowler WC, Brosius FC 3rd, Yee B, Mauer M, Nelson RG
Clin J Am Soc Nephrol 2016 Feb 5;11(2):254-61. Epub 2016 Jan 20 doi: 10.2215/CJN.05760515. PMID: 26792530Free PMC Article
Fu J, Lee K, Chuang PY, Liu Z, He JC
Am J Physiol Renal Physiol 2015 Feb 15;308(4):F287-97. Epub 2014 Nov 19 doi: 10.1152/ajprenal.00533.2014. PMID: 25411387Free PMC Article
Ballermann BJ
Kidney Int 2005 May;67(5):1668-71. doi: 10.1111/j.1523-1755.2005.00260.x. PMID: 15840009

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