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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

Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
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
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.
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

Analysis of the association of NPHS2 and ACTN4 genes polymorphism with nephrotic syndrome in Egyptian children.
Al-Azzawy MF, Al-Haggar M, ElSaid AM, El-Khawaga OY
Mol Biol Rep 2023 May;50(5):4481-4490. Epub 2023 Apr 4 doi: 10.1007/s11033-023-08387-4. PMID: 37014572Free PMC Article
Clinical, Pathological, and Genetic Characteristics in Patients with Focal Segmental Glomerulosclerosis.
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
Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology.
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
Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.
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
Genetic basis of nephrotic syndrome--review.
Obeidová H, Merta M, Reiterová J, Maixnerová D, Stekrová J, Rysavá R, Tesar V
Prague Med Rep 2006;107(1):5-16. PMID: 16752799

Diagnosis

Clinical, Pathological, and Genetic Characteristics in Patients with Focal Segmental Glomerulosclerosis.
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
Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa.
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
Clinical, pathological, and genetic characteristics of cases with asymptomatic proteinuria not manifesting nephrotic syndrome at onset: a single-center retrospective study.
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
Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology.
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
ACTN4 gene mutations and single nucleotide polymorphisms in idiopathic focal segmental glomerulosclerosis.
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

Therapy

Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa.
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
Kidney podocyte-associated gene polymorphisms affect tacrolimus concentration in pediatric patients with refractory nephrotic syndrome.
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
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.
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
Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.
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
Molecular basis of steroid-resistant nephrotic syndrome.
Antignac C
Nefrologia 2005;25 Suppl 2:25-8. PMID: 16050398

Prognosis

Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa.
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
Clinical, pathological, and genetic characteristics of cases with asymptomatic proteinuria not manifesting nephrotic syndrome at onset: a single-center retrospective study.
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
TRPC6 and FSGS: the latest TRP channelopathy.
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
Genetic basis of nephrotic syndrome--review.
Obeidová H, Merta M, Reiterová J, Maixnerová D, Stekrová J, Rysavá R, Tesar V
Prague Med Rep 2006;107(1):5-16. PMID: 16752799
Racial and ethnic differences in the incidence and progression of focal segmental glomerulosclerosis in children.
Andreoli SP
Adv Ren Replace Ther 2004 Jan;11(1):105-9. doi: 10.1053/j.arrt.2003.10.015. PMID: 14730545

Clinical prediction guides

Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa.
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
Clinical, pathological, and genetic characteristics of cases with asymptomatic proteinuria not manifesting nephrotic syndrome at onset: a single-center retrospective study.
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
Knockdown of NUP160 inhibits cell proliferation, induces apoptosis, autophagy and cell migration, and alters the expression and localization of podocyte associated molecules in mouse podocytes.
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
Podocyte proteins in congenital and minimal change nephrotic syndrome.
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
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.
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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