title: Focal segmental glomerulosclerosis: molecular genetics and targeted therapies.
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.
authors.affiliation: Renal Division, Washington University School of Medicine, 660 S. Euclid Ave., St. Louis, MO, 63110, USA. ychen@dom.wustl.edu.
authors.forename: Ying Maggie
authors.initials: YM
authors.lastname: Chen
authors.affiliation: , Nephropath, Little Rock, Arkansas.|Pathology & Immunology, Washington University School of Medicine, St. Louis, MO, USA.
authors.forename: Helen
authors.initials: H
authors.lastname: Liapis
mesh_terms: D000185:Actinin / Q000235:genetics; D000068879:Adalimumab / Q000627:therapeutic use; D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D000911:Antibodies, Monoclonal / Q000627:therapeutic use; D061067:Antibodies, Monoclonal, Humanized; D003598:Cytoskeletal Proteins / Q000235:genetics; D000080865:Formins; D005923:Glomerulosclerosis, Focal Segmental / Q000235:genetics* / Q000628:therapy; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007155:Immunologic Factors / Q000627:therapeutic use; D007166:Immunosuppressive Agents / Q000627:therapeutic use*; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D007797:Laminin / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D008840:Microfilament Proteins / Q000235:genetics; D058990:Molecular Targeted Therapy; D009173:Mycophenolic Acid / Q000031:analogs & derivatives / Q000627:therapeutic use; D010956:Plasmapheresis; D000069283:Rituximab / Q000627:therapeutic use; D050052:TRPC Cation Channels / Q000235:genetics; D000074287:TRPC6 Cation Channel; D025721:WT1 Proteins / Q000235:genetics
chemical_list: C111453:ACTN4 protein, human; D048868:Adaptor Proteins, Signal Transducing; D000305:Adrenal Cortex Hormones; D000893:Anti-Inflammatory Agents; D000911:Antibodies, Monoclonal; D061067:Antibodies, Monoclonal, Humanized; C114545:CD2-associated protein; D003598:Cytoskeletal Proteins; D000080865:Formins; C546959:INF2 protein, human; D007155:Immunologic Factors; D007166:Immunosuppressive Agents; D047908:Intracellular Signaling Peptides and Proteins; D007797:Laminin; D008565:Membrane Proteins; D008840:Microfilament Proteins; C407223:NPHS2 protein; D050052:TRPC Cation Channels; D000074287:TRPC6 Cation Channel; C117032:TRPC6 protein, human; D025721:WT1 Proteins; C583751:WT1 protein, human; C113267:nephrin; D000185:Actinin; C058783:laminin beta2; C560928:fresolimumab; D000069283:Rituximab; D000068879:Adalimumab; D009173:Mycophenolic Acid; C560078:pamrevlumab