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Open AccessArticle

Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis

1
Department of Pediatrics, Seoul National University College of Medicine, Seoul 03080, Korea
2
Department of Pediatrics, Kangnam Sacred Heart Hospital, Hallym University College of Medicine, Seoul 07441, Korea
3
Samsung Genome Institute, Samsung Medical Center, Seoul 06351, Korea
4
GENINUS Inc., Seoul 05836, Korea
5
Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul 05505, Korea
6
Department of Pediatrics, Pusan National University Children’s Hospital, Yangsan 50612, Korea
7
Department of Pediatrics, Kyungpook National University, School of Medicine, Daegu 41944, Korea
8
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea
9
Department of Pediatrics, Korea University Guro Hospital, Seoul 02841, Korea
10
Department of Pediatrics, Yonsei University College of Medicine, Seoul 03722, Korea
11
Division of Pediatric Nephrology, Severance Children’s Hospital, Seoul 03722, Korea
12
Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine, Suwon 16419, Korea
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2020, 9(6), 2013; https://doi.org/10.3390/jcm9062013
Received: 5 June 2020 / Revised: 16 June 2020 / Accepted: 19 June 2020 / Published: 26 June 2020
(This article belongs to the Special Issue Clinical Advances in the Management of Glomerular Disease)
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. View Full-Text
Keywords: steroid-resistant nephrotic syndrome; focal segmental glomerulosclerosis; genetic analysis steroid-resistant nephrotic syndrome; focal segmental glomerulosclerosis; genetic analysis
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Park, E.; Lee, C.; Kim, N.K.D.; Ahn, Y.H.; Park, Y.S.; Lee, J.H.; Kim, S.H.; Cho, M.H.; Cho, H.; Yoo, K.H.; Shin, J.I.; Kang, H.G.; Ha, I.-S.; Park, W.-Y.; Cheong, H.I. Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis. J. Clin. Med. 2020, 9, 2013.

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