Advanced Search
REVIEW ARTICLE
Korean J Pediatr 2017 March;60(3) :55-63.
Published online 2017 March 15.       
Genetics of hereditary nephrotic syndrome: a clinical review
Tae-Sun Ha
Department of Pediatrics, College of Medicine and Medical Research Institute, Chungbuk National University, Cheongju, Korea
Corresponding Author: Tae-Sun Ha ,Tel: +82-43-269-6374, Fax: +82-43-264-6620, Email: tsha@chungbuk.ac.kr
Copyright © 2017 by The Korean Pediatric Society
ABSTRACT
Advances in podocytology and genetic techniques have expanded our understanding of the pathogenesis of hereditary steroid-resistant nephrotic syndrome (SRNS). In the past 20 years, over 45 genetic mutations have been identified in patients with hereditary SRNS. Genetic mutations on structural and functional molecules in podocytes can lead to serious injury in the podocytes themselves and in adjacent structures, causing sclerotic lesions such as focal segmental glomerulosclerosis or diffuse mesangial sclerosis. This paper provides an update on the current knowledge of podocyte genes involved in the development of hereditary nephrotic syndrome and, thereby, reviews genotype-phenotype correlations to propose an approach for appropriate mutational screening based on clinical aspects.
Keywords: Nephrotic syndrome | Genetics | Inheritance
TOOLS
PDF Links  PDF Links
Full text via DOI  Full text via DOI
Download Citation  Download Citation
Supplementary Material  Supplementary Material
  E-Mail
Share:      
METRICS
747
View
149
Download
Pathogenesis of minimal change nephrotic syndrome: an immunological concept  2016 May;59(5)
Cystic Fibrosis of Pancreas and Nephrotic Syndrome: a rare association  2013 October;56(10)
A case of partial trisomy 3p syndrome with rare clinical manifestations  2012 March;55(3)
Complications of nephrotic syndrome  2011 August;54(8)
Treatment of steroid-resistant pediatric nephrotic syndrome  2011 August;54(8)
Register for e-submission
Register here to access the e-submission system of Korean J Pediatr for authors and reviewers.
Manuscript Submission
To submit a manuscript, please visit the Korean J Pediatr e-submission management system at http://submit.kjp.or.kr, read the Instructions for Authors, and log into the Korean J Pediatr e-submission system. For assistance with manuscript submission, please contact: kjpped@gmail.com.
Free archive
Anyone may access any past or current articles without logging in.
Korean Pediatric Society Office
#1606, Seocho World Officetel, 19 Seoun-ro, Seocho-gu, Seoul 137-070, Korea
TEL : +82-2-3473-7305    FAX : +82-2-3473-7307   E-mail: kjpped@gmail.com
BrowseCurrent IssueFor Authors and ReviewersAbout
Copyright© The Korean Pediatric Society. All right reserved.