Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis
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...
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MDPI AG
2020-06-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/9/6/2013 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Eujin Park |
| collection | DOAJ |
| description | 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). <i>WT1</i> was the most common causative gene (23.6%), followed by <i>COQ6</i> (8.7%), <i>NPHS1</i> (8.7%), <i>NUP107</i> (7.1%), and <i>COQ8B</i> (6.3%). Mutations in <i>COQ6</i>, <i>NUP107</i>, and <i>COQ8B</i> were more frequently detected, and mutations in <i>NPHS2</i> 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. |
| first_indexed | 2024-03-10T18:51:44Z |
| format | Article |
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| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-10T18:51:44Z |
| publishDate | 2020-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-be7e1d1cc90a4ee3861fd9c4517ed4972023-11-20T05:05:14ZengMDPI AGJournal of Clinical Medicine2077-03832020-06-0196201310.3390/jcm9062013Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental GlomerulosclerosisEujin Park0Chung Lee1Nayoung K. D. Kim2Yo Han Ahn3Young Seo Park4Joo Hoon Lee5Seong Heon Kim6Min Hyun Cho7Heeyeon Cho8Kee Hwan Yoo9Jae Il Shin10Hee Gyung Kang11Il-Soo Ha12Woong-Yang Park13Hae Il Cheong14Department of Pediatrics, Seoul National University College of Medicine, Seoul 03080, KoreaSamsung Genome Institute, Samsung Medical Center, Seoul 06351, KoreaSamsung Genome Institute, Samsung Medical Center, Seoul 06351, KoreaDepartment of Pediatrics, Seoul National University College of Medicine, Seoul 03080, KoreaDepartment of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul 05505, KoreaDepartment of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul 05505, KoreaDepartment of Pediatrics, Pusan National University Children’s Hospital, Yangsan 50612, KoreaDepartment of Pediatrics, Kyungpook National University School of Medicine, Daegu 41944, KoreaDepartment of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, KoreaDepartment of Pediatrics, Korea University Guro Hospital, Seoul 02841, KoreaDepartment of Pediatrics, Yonsei University College of Medicine, Seoul 03722, KoreaDepartment of Pediatrics, Seoul National University College of Medicine, Seoul 03080, KoreaDepartment of Pediatrics, Seoul National University College of Medicine, Seoul 03080, KoreaSamsung Genome Institute, Samsung Medical Center, Seoul 06351, KoreaDepartment of Pediatrics, Seoul National University College of Medicine, Seoul 03080, KoreaSteroid-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). <i>WT1</i> was the most common causative gene (23.6%), followed by <i>COQ6</i> (8.7%), <i>NPHS1</i> (8.7%), <i>NUP107</i> (7.1%), and <i>COQ8B</i> (6.3%). Mutations in <i>COQ6</i>, <i>NUP107</i>, and <i>COQ8B</i> were more frequently detected, and mutations in <i>NPHS2</i> 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.https://www.mdpi.com/2077-0383/9/6/2013steroid-resistant nephrotic syndromefocal segmental glomerulosclerosisgenetic analysis |
| spellingShingle | 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 Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis Journal of Clinical Medicine steroid-resistant nephrotic syndrome focal segmental glomerulosclerosis genetic analysis |
| title | Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis |
| title_full | Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis |
| title_fullStr | Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis |
| title_full_unstemmed | Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis |
| title_short | Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis |
| title_sort | genetic study in korean pediatric patients with steroid resistant nephrotic syndrome or focal segmental glomerulosclerosis |
| topic | steroid-resistant nephrotic syndrome focal segmental glomerulosclerosis genetic analysis |
| url | https://www.mdpi.com/2077-0383/9/6/2013 |
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