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Nephrotic Syndrome - WT1 Associated

MedGen UID:
882198
•Concept ID:
C4054361
•
Disease or Syndrome

Definition

Nephrotic syndrome attributed to mutation(s) in the WT1 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNephrotic Syndrome - WT1 Associated

Professional guidelines

PubMed

Genetic screening in children with challenging nephrotic syndrome.
Saeed B
Saudi J Kidney Dis Transpl 2020 Nov-Dec;31(6):1189-1197. doi: 10.4103/1319-2442.308327. PMID: 33565430
Early diagnosis of WT1 nephropathy and follow up in a Chinese multicenter cohort.
Sun S, Xu L, Bi Y, Wang J, Zhang Z, Tang X, Cao Q, Zhai Y, Chen J, Fang X, Liu J, Fang Y, Xiang T, Qian Y, Wu B, Wang H, Zhou W, Shen J, Dong K, Liu X, Zheng B, Zhang A, Wang X, Wu Y, Ma D, Shen Q, Rao J, Xu H
Eur J Med Genet 2020 Nov;63(11):104047. Epub 2020 Sep 4 doi: 10.1016/j.ejmg.2020.104047. PMID: 32891756
The podocyte as a target: cyclosporin A in the management of the nephrotic syndrome caused by WT1 mutations.
Stefanidis CJ, Querfeld U
Eur J Pediatr 2011 Nov;170(11):1377-83. Epub 2011 Feb 8 doi: 10.1007/s00431-011-1397-6. PMID: 21298518

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
Genetics of congenital and infantile nephrotic syndrome.
Sharief SN, Hefni NA, Alzahrani WA, Nazer II, Bayazeed MA, Alhasan KA, Safdar OY, El-Desoky SM, Kari JA
World J Pediatr 2019 Apr;15(2):198-203. Epub 2019 Feb 5 doi: 10.1007/s12519-018-00224-0. PMID: 30721404
WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome.
Ramanathan AS, Vijayan M, Rajagopal S, Rajendiran P, Senguttuvan P
Mol Cell Biochem 2017 Feb;426(1-2):177-181. Epub 2016 Nov 25 doi: 10.1007/s11010-016-2889-5. PMID: 27885584
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
Tasic V, Gucev Z, Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. PMID: 27442391
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group, Hildebrandt F
J Am Soc Nephrol 2015 Jun;26(6):1279-89. Epub 2014 Oct 27 doi: 10.1681/ASN.2014050489. PMID: 25349199Free PMC Article

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
Genetics of congenital and infantile nephrotic syndrome.
Sharief SN, Hefni NA, Alzahrani WA, Nazer II, Bayazeed MA, Alhasan KA, Safdar OY, El-Desoky SM, Kari JA
World J Pediatr 2019 Apr;15(2):198-203. Epub 2019 Feb 5 doi: 10.1007/s12519-018-00224-0. PMID: 30721404
Cytoplasmic Localization of WT1 and Decrease of miRNA-16-1 in Nephrotic Syndrome.
Zapata-Benavides P, Arellano-Rodríguez M, Bollain-Y-Goytia JJ, Franco-Molina MA, Rangel-Ochoa GA, Avalos-Díaz E, Herrera-Esparza R, Rodríguez-Padilla C
Biomed Res Int 2017;2017:9531074. Epub 2017 Feb 19 doi: 10.1155/2017/9531074. PMID: 28299339Free PMC Article
WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome.
Ramanathan AS, Vijayan M, Rajagopal S, Rajendiran P, Senguttuvan P
Mol Cell Biochem 2017 Feb;426(1-2):177-181. Epub 2016 Nov 25 doi: 10.1007/s11010-016-2889-5. PMID: 27885584
The etiology of congenital nephrotic syndrome: current status and challenges.
Wang JJ, Mao JH
World J Pediatr 2016 May;12(2):149-58. Epub 2016 Mar 9 doi: 10.1007/s12519-016-0009-y. PMID: 26961288

Therapy

Alteration in DNA-binding affinity of Wilms tumor 1 protein due to WT1 genetic variants associated with steroid - resistant nephrotic syndrome in children.
Bezdicka M, Kaufman F, Krizova I, Dostalkova A, Rumlova M, Seeman T, Vondrak K, Fencl F, Zieg J, Soucek O
Sci Rep 2022 May 24;12(1):8704. doi: 10.1038/s41598-022-12760-x. PMID: 35610319Free PMC Article
CMIP interacts with WT1 and targets it on the proteasome degradation pathway.
Zhang SY, Fan Q, Moktefi A, Ory V, Audard V, Pawlak A, Ollero M, Sahali D, Henique C
Clin Transl Med 2021 Jul;11(7):e460. doi: 10.1002/ctm2.460. PMID: 34323419Free PMC Article
WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome.
Ramanathan AS, Vijayan M, Rajagopal S, Rajendiran P, Senguttuvan P
Mol Cell Biochem 2017 Feb;426(1-2):177-181. Epub 2016 Nov 25 doi: 10.1007/s11010-016-2889-5. PMID: 27885584
The podocyte as a target: cyclosporin A in the management of the nephrotic syndrome caused by WT1 mutations.
Stefanidis CJ, Querfeld U
Eur J Pediatr 2011 Nov;170(11):1377-83. Epub 2011 Feb 8 doi: 10.1007/s00431-011-1397-6. PMID: 21298518
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

Genetics of congenital and infantile nephrotic syndrome.
Sharief SN, Hefni NA, Alzahrani WA, Nazer II, Bayazeed MA, Alhasan KA, Safdar OY, El-Desoky SM, Kari JA
World J Pediatr 2019 Apr;15(2):198-203. Epub 2019 Feb 5 doi: 10.1007/s12519-018-00224-0. PMID: 30721404
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
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
Tasic V, Gucev Z, Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. PMID: 27442391
Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.
Cil O, Besbas N, Duzova A, Topaloglu R, Peco-Antić A, Korkmaz E, Ozaltin F
Pediatr Nephrol 2015 Aug;30(8):1279-87. Epub 2015 Feb 27 doi: 10.1007/s00467-015-3058-x. PMID: 25720465
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group, Hildebrandt F
J Am Soc Nephrol 2015 Jun;26(6):1279-89. Epub 2014 Oct 27 doi: 10.1681/ASN.2014050489. PMID: 25349199Free PMC Article

Clinical prediction guides

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
WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease.
Ferrari MTM, Watanabe A, da Silva TE, Gomes NL, Batista RL, Nishi MY, de Paula LCP, Costa EC, Costa EMF, Cukier P, Onuchic LF, Mendonca BB, Domenice S
Sex Dev 2022;16(1):46-54. Epub 2021 Aug 13 doi: 10.1159/000517373. PMID: 34392242
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
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
Tasic V, Gucev Z, Polenakovic M
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. PMID: 27442391
Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.
Cil O, Besbas N, Duzova A, Topaloglu R, Peco-Antić A, Korkmaz E, Ozaltin F
Pediatr Nephrol 2015 Aug;30(8):1279-87. Epub 2015 Feb 27 doi: 10.1007/s00467-015-3058-x. PMID: 25720465

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