Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis
Clicks: 305
ID: 112937
2020
Article Quality & Performance Metrics
Overall Quality
Not rated
Combines reader engagement with the AI quality analysis. This
article has not been analysed, so there is no overall score —
reader engagement is measured and shown alongside.
Reader Engagement
Steady Performance
30.0
/100
305 views
58 readers
AI Quality Assessment
Not analyzed
Readership in this journal
SteadyRanked #126 of 253 articles by views in journal of clinical medicine
Most read
Least read
Bar heights use a square-root scale. Only the 120 most-read articles are drawn; the journal has 253 in total.
Mint this article as an NFT
Not yet mintedCreate a permanent, verifiable on-chain record of this article on the Scimatic Network. The NFT is held in your Journament account, and you can withdraw it to your own wallet at any time.
5
SUSD
one-off · no wallet required
Abstract
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.
| Reference Key |
park2020journalgenetic
Use this key to autocite in the manuscript while using
SciMatic Manuscript Manager or Thesis Manager
|
|---|---|
| Authors | 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;Park, Eujin;Lee, Chung;Kim, Nayoung K. D.;Ahn, Yo Han;Park, Young Seo;Lee, Joo Hoon;Kim, Seong Heon;Cho, Min Hyun;Cho, Heeyeon;Yoo, Kee Hwan;Shin, Jae Il;Kang, Hee Gyung;Ha, Il-Soo;Park, Woong-Yang;Cheong, Hae Il; |
| Journal | journal of clinical medicine |
| Year | 2020 |
| DOI |
10.3390/jcm9062013
|
| URL | |
| Keywords |
Citations
No citations found. To add a citation, contact the admin at info@scimatic.org
Comments
No comments yet. Be the first to comment on this article.