Genetics of hereditary nephrotic syndrome: a clinical review

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 fu...

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Bibliographic Details
Published in:Clinical and experimental pediatrics 2017, 60(3), , pp.55-63
Main Author: Ha, Tae-Sun
Format: Article
Language:English
Subjects:
Genes
Genetic research
Genetics
Genomes
Immunosuppressive agents
Inheritance
Kidney diseases
Laboratories
Medical prognosis
Mutation
Nephrotic syndrome
Pathogenesis
Patients
Proteins
Review
Steroids
소아과학
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Summary: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.
ISSN:1738-1061
2092-7258
2713-4148
DOI:10.3345/kjp.2017.60.3.55