Focal segmental glomerulosclerosis: Molecular genetics and targeted therapies Immunology and Pathology

Ying Maggie Chen, Helen Liapis

Research output: Contribution to journalReview article

36 Scopus citations

Abstract

Recent advances show that human focal segmental glomerulosclerosis (FSGS) is a primary podocytopathy caused by podocyte-specific gene mutations including NPHS1, NPHS2, WT-1, LAMB2, CD2AP, TRPC6, ACTN4 and INF2. This review focuses on genes discovered in the investigation of complex FSGS pathomechanisms that may have implications for the current FSGS classification scheme. It also recounts recent recommendations for clinical management of FSGS based on translational studies and clinical trials. The advent of next-generation sequencing promises to provide nephrologists with rapid and novel approaches for the diagnosis and treatment of FSGS. A stratified and targeted approach based on the underlying molecular defects is evolving.

Original languageEnglish
Article number101
JournalBMC Nephrology
Volume16
Issue number1
DOIs
StatePublished - Jul 9 2015

Keywords

  • Focal segmental glomerulosclerosis
  • Next-generation sequencing
  • Podocyte gene mutation
  • Proteinuria

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