Genetic study in korean pediatric patients with steroid-resistant nephrotic syndrome or focal segmental glomerulosclerosis

Eujin Park, Chung Lee, Nayoung K.D. Kim, Yo Han Ahn, Young Seo Park, Joo Hoon Lee, Seong Heon Kim, Min Hyun Cho, Heeyeon Cho, Kee Hwan Yoo, Jae Il Shin, Hee Gyung Kang, Il Soo Ha, Woong Yang Park, Hae Il Cheong

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22 Citations (Scopus)


Steroid-resistant nephrotic syndrome (SRNS) is one of the major causes of end-stage renal disease (ESRD) in childhood and is mostly associated with focal segmental glomerulosclerosis (FSGS). More than 50 monogenic causes of SRNS or FSGS have been identified. Recently, the mutation detection rate in pediatric patients with SRNS has been reported to be approximately 30%. In this study, genotype-phenotype correlations in a cohort of 291 Korean pediatric patients with SRNS/FSGS were analyzed. The overall mutation detection rate was 43.6% (127 of 291 patients). WT1 was the most common causative gene (23.6%), followed by COQ6 (9.4%), NPHS1 (8.7%), NUP107 (7.1%), and COQ8B (6.3%). Mutations in COQ6, NUP107, and COQ8B were more frequently detected, and mutations in NPHS2 were less commonly detected in this cohort than in study cohorts from Western countries. The mutation detection rate was higher in patients with congenital onset, those who presented with proteinuria or chronic kidney disease/ESRD, and those who did not receive steroid treatment. Genetic diagnosis in patients with SRNS provides not only definitive diagnosis but also valuable information for decisions on treatment policy and prediction of prognosis. Therefore, further genotype-phenotype correlation studies are required.

Original languageEnglish
Article number2013
Pages (from-to)1-16
Number of pages16
JournalJournal of Clinical Medicine
Issue number6
Publication statusPublished - 2020 Jun

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© 2020 by the authors. Licensee MDPI, Basel, Switzerland.

All Science Journal Classification (ASJC) codes

  • General Medicine


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