Literature DB >> 23772861

Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing.

S Joshi1, R Andersen, B Jespersen, S Rittig.   

Abstract

UNLABELLED: Identification of genes, associated mutations and genotype-phenotype correlations in steroid-resistant nephrotic syndrome (SRNS) is being translated to clinical practice through genetic testing. This review provides an update on the genes and mutations associated with SRNS along with a suggested approach for genetic testing in patients with SRNS.
CONCLUSION: The number of indentified genes associated with SRNS is increasing along with our understanding of their impact on treatment response and risk of recurrence. A systematic approach to genetic testing in patients with SRNS might aid the physician in selecting appropriate treatment. ©2013 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

Entities:  

Keywords:  Gene mutations; Genetic testing; Nephrotic syndrome; Podocyte; Steroid resistance

Mesh：

Substances：

Year:  2013        PMID： 23772861     DOI： 10.1111/apa.12317

Source DB:  PubMed          Journal:  Acta Paediatr        ISSN： 0803-5253            Impact factor:   2.299


  12 in total

Review 1.  The status quo and challenges of genetic diagnosis in children with steroid-resistant nephrotic syndrome.

Authors:  Yan-Yan Jin; Bing-Yu Feng; Jian-Hua Mao
Journal:  World J Pediatr       Date:  2018-04-11       Impact factor: 2.764

2.  Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.

Authors:  Fang Wang; Yanqin Zhang; Jianhua Mao; Zihua Yu; Zhuwen Yi; Li Yu; Jun Sun; Xiuxiu Wei; Fangrui Ding; Hongwen Zhang; Huijie Xiao; Yong Yao; Weizhen Tan; Svjetlana Lovric; Jie Ding; Friedhelm Hildebrandt
Journal:  Pediatr Nephrol       Date:  2017-02-15       Impact factor: 3.714

3.  Re: steroid-resistant nephrotic syndrome: impact of genetic testing.

Authors:  Muhammed Mubarak; Aiysha Abid
Journal:  Ann Saudi Med       Date:  2014 Mar-Apr       Impact factor: 1.526

4.  Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.

Authors:  Martin Bezdíčka; Šárka Štolbová; Tomáš Seeman; Ondřej Cinek; Michal Malina; Naděžda Šimánková; Štěpánka Průhová; Jakub Zieg
Journal:  Pediatr Nephrol       Date:  2018-06-04       Impact factor: 3.714

5.  Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect.

Authors:  Manal M Thomas; Heba Mostafa Ahmed; Sara H El-Dessouky; Abeer Ramadan; Osama Ezzat Botrous; Mohamed S Abdel-Hamid
Journal:  Mol Genet Genomics       Date:  2022-03-12       Impact factor: 3.291

6.  MDR1 polymorphisms and idiopathic nephrotic syndrome in Slovak children: preliminary results.

Authors:  Martina Cizmarikova; Ludmila Podracka; Lucia Klimcakova; Viera Habalova; Andrej Boor; Jan Mojzis; Ladislav Mirossay
Journal:  Med Sci Monit       Date:  2015-01-06

Review 7.  The glomerular permeability factors in idiopathic nephrotic syndrome.

Authors:  Jean-Claude Davin
Journal:  Pediatr Nephrol       Date:  2015-04-30       Impact factor: 3.714

8.  Cytoplasmic Localization of WT1 and Decrease of miRNA-16-1 in Nephrotic Syndrome.

Authors:  Pablo Zapata-Benavides; Mariela Arellano-Rodríguez; Juan José Bollain-Y-Goytia; Moisés Armides Franco-Molina; Gloria Azucena Rangel-Ochoa; Esperanza Avalos-Díaz; Rafael Herrera-Esparza; Cristina Rodríguez-Padilla
Journal:  Biomed Res Int       Date:  2017-02-19       Impact factor: 3.411

Review 9.  Genetics of hereditary nephrotic syndrome: a clinical review.

Authors:  Tae-Sun Ha
Journal:  Korean J Pediatr       Date:  2017-03-27

Review 10.  Prospects of genetic testing for steroid-resistant nephrotic syndrome in Nigerian children: a narrative review of challenges and opportunities.

Authors:  Emmanuel Ademola Anigilaje; Ayodotun Olutola
Journal:  Int J Nephrol Renovasc Dis       Date:  2019-05-08
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