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Nephrotic Syndrome - TRPC6 Associated

MedGen UID:
888362
•Concept ID:
C4054363
•
Disease or Syndrome

Definition

Nephrotic syndrome attributed to mutation(s) in the TRPC6 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNephrotic Syndrome - TRPC6 Associated

Professional guidelines

PubMed

Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population.
Neves PD, Watanabe A, Watanabe EH, Narcizo AM, Nunes K, Lerario AM, Ferreira FM, Cavalcante LB, Wongboonsin J, Malheiros DM, Jorge LB, Sampson MG, Noronha IL, Onuchic LF
Kidney Int 2024 Mar;105(3):593-607. Epub 2023 Dec 22 doi: 10.1016/j.kint.2023.11.028. PMID: 38143038
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

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
Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome.
Thakor JM, Parmar G, Mistry KN, Gang S, Rank DN, Joshi CG
Mol Biol Rep 2021 Nov;48(11):7193-7201. Epub 2021 Sep 21 doi: 10.1007/s11033-021-06711-4. PMID: 34546508
TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype.
Gigante M, Caridi G, Montemurno E, Soccio M, d'Apolito M, Cerullo G, Aucella F, Schirinzi A, Emma F, Massella L, Messina G, De Palo T, Ranieri E, Ghiggeri GM, Gesualdo L
Clin J Am Soc Nephrol 2011 Jul;6(7):1626-34. doi: 10.2215/CJN.07830910. PMID: 21734084
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

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
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
Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome.
Thakor JM, Parmar G, Mistry KN, Gang S, Rank DN, Joshi CG
Mol Biol Rep 2021 Nov;48(11):7193-7201. Epub 2021 Sep 21 doi: 10.1007/s11033-021-06711-4. PMID: 34546508
254C>G: a TRPC6 promoter variation associated with enhanced transcription and steroid-resistant nephrotic syndrome in Chinese children.
Kuang XY, Huang WY, Xu H, Shi Y, Zhang XL, Niu XL, Wu Y, Mei CZ, Zha XL, Zhao ZH, Zhang ZG
Pediatr Res 2013 Nov;74(5):511-6. Epub 2013 Sep 2 doi: 10.1038/pr.2013.144. PMID: 23999069
Primer: strategies for identifying genes involved in renal disease.
de Borst MH, Benigni A, Remuzzi G
Nat Clin Pract Nephrol 2008 May;4(5):265-76. Epub 2008 Mar 25 doi: 10.1038/ncpneph0785. PMID: 18364721

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
Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern.
Suvanto M, Patrakka J, Jahnukainen T, Sjöström PM, Nuutinen M, Arikoski P, Kataja J, Kestilä M, Jalanko H
Clin Exp Nephrol 2017 Aug;21(4):677-684. Epub 2016 Aug 29 doi: 10.1007/s10157-016-1331-3. PMID: 27573339
TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype.
Gigante M, Caridi G, Montemurno E, Soccio M, d'Apolito M, Cerullo G, Aucella F, Schirinzi A, Emma F, Massella L, Messina G, De Palo T, Ranieri E, Ghiggeri GM, Gesualdo L
Clin J Am Soc Nephrol 2011 Jul;6(7):1626-34. doi: 10.2215/CJN.07830910. PMID: 21734084
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
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
Büscher AK, Kranz B, Büscher R, Hildebrandt F, Dworniczak B, Pennekamp P, Kuwertz-Bröking E, Wingen AM, John U, Kemper M, Monnens L, Hoyer PF, Weber S, Konrad M
Clin J Am Soc Nephrol 2010 Nov;5(11):2075-84. Epub 2010 Aug 26 doi: 10.2215/CJN.01190210. PMID: 20798252Free PMC Article

Prognosis

Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population.
Neves PD, Watanabe A, Watanabe EH, Narcizo AM, Nunes K, Lerario AM, Ferreira FM, Cavalcante LB, Wongboonsin J, Malheiros DM, Jorge LB, Sampson MG, Noronha IL, Onuchic LF
Kidney Int 2024 Mar;105(3):593-607. Epub 2023 Dec 22 doi: 10.1016/j.kint.2023.11.028. PMID: 38143038
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
Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome.
Thakor JM, Parmar G, Mistry KN, Gang S, Rank DN, Joshi CG
Mol Biol Rep 2021 Nov;48(11):7193-7201. Epub 2021 Sep 21 doi: 10.1007/s11033-021-06711-4. PMID: 34546508
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

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
Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children.
Wang Y, Dang X, He Q, Zhen Y, He X, Yi Z, Zhu K
Gene 2017 Aug 20;625:15-20. Epub 2017 May 2 doi: 10.1016/j.gene.2017.04.050. PMID: 28476686
In silico analysis of functional nsSNPs in human TRPC6 gene associated with steroid resistant nephrotic syndrome.
Joshi BB, Koringa PG, Mistry KN, Patel AK, Gang S, Joshi CG
Gene 2015 Nov 1;572(1):8-16. Epub 2015 Jun 27 doi: 10.1016/j.gene.2015.06.069. PMID: 26127002
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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