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Nephrotic Syndrome - ACTN4 Associated

MedGen UID:
881760
Concept ID:
C4054401
Disease or Syndrome

Definition

Nephrotic syndrome attributed to mutation(s) in the ACTN4 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNephrotic Syndrome - ACTN4 Associated

Professional guidelines

PubMed

Lipska BS, Iatropoulos P, Maranta R, Caridi G, Ozaltin F, Anarat A, Balat A, Gellermann J, Trautmann A, Erdogan O, Saeed B, Emre S, Bogdanovic R, Azocar M, Balasz-Chmielewska I, Benetti E, Caliskan S, Mir S, Melk A, Ertan P, Baskin E, Jardim H, Davitaia T, Wasilewska A, Drozdz D, Szczepanska M, Jankauskiene A, Higuita LM, Ardissino G, Ozkaya O, Kuzma-Mroczkowska E, Soylemezoglu O, Ranchin B, Medynska A, Tkaczyk M, Peco-Antic A, Akil I, Jarmolinski T, Firszt-Adamczyk A, Dusek J, Simonetti GD, Gok F, Gheissari A, Emma F, Krmar RT, Fischbach M, Printza N, Simkova E, Mele C, Ghiggeri GM, Schaefer F; PodoNet Consortium
Kidney Int 2013 Jul;84(1):206-13. Epub 2013 Mar 20 doi: 10.1038/ki.2013.93. PMID: 23515051
Santín S, Bullich G, Tazón-Vega B, García-Maset R, Giménez I, Silva I, Ruíz P, Ballarín J, Torra R, Ars E
Clin J Am Soc Nephrol 2011 May;6(5):1139-48. Epub 2011 Mar 17 doi: 10.2215/CJN.05260610. PMID: 21415313Free PMC Article

Recent clinical studies

Etiology

Nagano C, Hara S, Yoshikawa N, Takeda A, Gotoh Y, Hamada R, Matsuoka K, Yamamoto M, Fujinaga S, Sakuraya K, Kamei K, Hamasaki Y, Oguchi H, Araki Y, Ogawa Y, Okamoto T, Ito S, Tanaka S, Kaito H, Aoto Y, Ishiko S, Rossanti R, Sakakibara N, Horinouchi T, Yamamura T, Nagase H, Iijima K, Nozu K
Kidney360 2022 Aug 25;3(8):1384-1393. Epub 2022 May 24 doi: 10.34067/KID.0000812022. PMID: 36176665Free PMC Article
Park SJ, Kim Y, Chen YM
Pediatr Nephrol 2019 Sep;34(9):1493-1500. Epub 2018 Aug 11 doi: 10.1007/s00467-018-4031-2. PMID: 30099615Free PMC Article
Safaříková M, Reiterová J, Safránková H, Stekrová J, Zidková A, Obeidová L, Kohoutová M, Tesař V
Folia Biol (Praha) 2013;59(3):110-5. PMID: 23890478
Obeidová H, Merta M, Reiterová J, Maixnerová D, Stekrová J, Rysavá R, Tesar V
Prague Med Rep 2006;107(1):5-16. PMID: 16752799
Andreoli SP
Adv Ren Replace Ther 2004 Jan;11(1):105-9. doi: 10.1053/j.arrt.2003.10.015. PMID: 14730545

Diagnosis

Nagano C, Hara S, Yoshikawa N, Takeda A, Gotoh Y, Hamada R, Matsuoka K, Yamamoto M, Fujinaga S, Sakuraya K, Kamei K, Hamasaki Y, Oguchi H, Araki Y, Ogawa Y, Okamoto T, Ito S, Tanaka S, Kaito H, Aoto Y, Ishiko S, Rossanti R, Sakakibara N, Horinouchi T, Yamamura T, Nagase H, Iijima K, Nozu K
Kidney360 2022 Aug 25;3(8):1384-1393. Epub 2022 May 24 doi: 10.34067/KID.0000812022. PMID: 36176665Free PMC Article
Watanabe Y, Fujinaga S, Sakuraya K, Ikeda H, Nozu K
Clin Exp Nephrol 2022 May;26(5):453-459. Epub 2022 Feb 3 doi: 10.1007/s10157-021-02174-w. PMID: 35113255
Park SJ, Kim Y, Chen YM
Pediatr Nephrol 2019 Sep;34(9):1493-1500. Epub 2018 Aug 11 doi: 10.1007/s00467-018-4031-2. PMID: 30099615Free PMC Article
Dai S, Wang Z, Pan X, Chen X, Wang W, Ren H, Feng Q, He JC, Han B, Chen N
Nephron Clin Pract 2009;111(2):c87-94. Epub 2009 Jan 13 doi: 10.1159/000191198. PMID: 19142020
Winn MP
Nephrol Dial Transplant 2003 Aug;18 Suppl 6:vi14-20. doi: 10.1093/ndt/gfg1070. PMID: 12953036

Therapy

Nandlal L, Winkler CA, Bhimma R, Cho S, Nelson GW, Haripershad S, Naicker T
Eur J Pediatr 2022 Oct;181(10):3595-3606. Epub 2022 Aug 3 doi: 10.1007/s00431-022-04581-x. PMID: 35920919Free PMC Article
Mo X, Li J, Liu Y, Liao X, Tan M, Chen Y, He F, He Y, Li Y, Huang M
Pharmacogenomics J 2020 Aug;20(4):543-552. Epub 2020 Jan 6 doi: 10.1038/s41397-019-0141-x. PMID: 31902946
Santín S, Bullich G, Tazón-Vega B, García-Maset R, Giménez I, Silva I, Ruíz P, Ballarín J, Torra R, Ars E
Clin J Am Soc Nephrol 2011 May;6(5):1139-48. Epub 2011 Mar 17 doi: 10.2215/CJN.05260610. PMID: 21415313Free PMC Article
Benoit G, Machuca E, Nevo F, Gribouval O, Lepage D, Antignac C
Pediatr Nephrol 2010 Mar;25(3):445-51. Epub 2009 Dec 3 doi: 10.1007/s00467-009-1372-x. PMID: 19956976
Antignac C
Nefrologia 2005;25 Suppl 2:25-8. PMID: 16050398

Prognosis

Watanabe Y, Fujinaga S, Sakuraya K, Ikeda H, Nozu K
Clin Exp Nephrol 2022 May;26(5):453-459. Epub 2022 Feb 3 doi: 10.1007/s10157-021-02174-w. PMID: 35113255
Mukerji N, Damodaran TV, Winn MP
Biochim Biophys Acta 2007 Aug;1772(8):859-68. Epub 2007 Mar 20 doi: 10.1016/j.bbadis.2007.03.005. PMID: 17459670
Obeidová H, Merta M, Reiterová J, Maixnerová D, Stekrová J, Rysavá R, Tesar V
Prague Med Rep 2006;107(1):5-16. PMID: 16752799
Andreoli SP
Adv Ren Replace Ther 2004 Jan;11(1):105-9. doi: 10.1053/j.arrt.2003.10.015. PMID: 14730545
Caridi G, Bertelli R, Di Duca M, Dagnino M, Emma F, Onetti Muda A, Scolari F, Miglietti N, Mazzucco G, Murer L, Carrea A, Massella L, Rizzoni G, Perfumo F, Ghiggeri GM
J Am Soc Nephrol 2003 May;14(5):1278-86. doi: 10.1097/01.asn.0000060578.79050.e0. PMID: 12707396

Clinical prediction guides

Nandlal L, Winkler CA, Bhimma R, Cho S, Nelson GW, Haripershad S, Naicker T
Eur J Pediatr 2022 Oct;181(10):3595-3606. Epub 2022 Aug 3 doi: 10.1007/s00431-022-04581-x. PMID: 35920919Free PMC Article
Watanabe Y, Fujinaga S, Sakuraya K, Ikeda H, Nozu K
Clin Exp Nephrol 2022 May;26(5):453-459. Epub 2022 Feb 3 doi: 10.1007/s10157-021-02174-w. PMID: 35113255
Wang P, Zhao F, Nie X, Liu J, Yu Z
Gene 2018 Jul 20;664:12-21. Epub 2018 Apr 25 doi: 10.1016/j.gene.2018.04.067. PMID: 29704630
Suvanto M, Jahnukainen T, Kestilä M, Jalanko H
Clin Exp Nephrol 2015 Jun;19(3):481-8. Epub 2014 Aug 14 doi: 10.1007/s10157-014-1020-z. PMID: 25117488
Santín S, Bullich G, Tazón-Vega B, García-Maset R, Giménez I, Silva I, Ruíz P, Ballarín J, Torra R, Ars E
Clin J Am Soc Nephrol 2011 May;6(5):1139-48. Epub 2011 Mar 17 doi: 10.2215/CJN.05260610. PMID: 21415313Free PMC Article

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