Genetics of hereditary nephrotic syndrome: a clinical review.

Author: Tae Sun HA ¹
Author Information

1. Department of Pediatrics, College of Medicine and Medical Research Institute, Chungbuk National University, Cheongju, Korea. tsha@chungbuk.ac.kr
Publication Type:Review
Keywords: Nephrotic syndrome; Genetics; Inheritance
MeSH: Genetic Association Studies; Genetic Techniques; Genetics*; Glomerulosclerosis, Focal Segmental; Humans; Mass Screening; Nephrotic Syndrome*; Podocytes; Sclerosis; Wills
From:Korean Journal of Pediatrics 2017;60(3):55-63
CountryRepublic of Korea
Language:English
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.