1. Genetics of hereditary nephrotic syndrome: a clinical review
- Author
-
Tae Sun Ha
- Subjects
0301 basic medicine ,medicine.medical_specialty ,030232 urology & nephrology ,Nephrotic syndrome ,Review Article ,Bioinformatics ,Pediatrics ,Podocyte ,Pathogenesis ,03 medical and health sciences ,0302 clinical medicine ,Focal segmental glomerulosclerosis ,Functional importance ,Genetics ,Medicine ,In patient ,Diffuse mesangial sclerosis ,Inheritance ,business.industry ,lcsh:RJ1-570 ,lcsh:Pediatrics ,medicine.disease ,030104 developmental biology ,medicine.anatomical_structure ,Pediatrics, Perinatology and Child Health ,Medical genetics ,business - 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.
- Published
- 2017