Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Genetics of hereditary nephrotic syndrome: a clinical review

  • Ha, Tae-Sun (Department of Pediatrics, College of Medicine and Medical Research Institute, Chungbuk National University)
  • Received : 2016.03.12
  • Accepted : 2016.05.25
  • Published : 2017.03.15
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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.

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References

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