title: Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing.
abstract: Identification of genes, associated mutations and genotype-phenotype correlations in steroid-resistant nephrotic syndrome (SRNS) is being translated to clinical practice through genetic testing. This review provides an update on the genes and mutations associated with SRNS along with a suggested approach for genetic testing in patients with SRNS.
  
  
  CONCLUSIONS
  The number of indentified genes associated with SRNS is increasing along with our understanding of their impact on treatment response and risk of recurrence. A systematic approach to genetic testing in patients with SRNS might aid the physician in selecting appropriate treatment.
authors.affiliation: Department of Clinical Medicine - The Department of Pediatrics, Research Laboratory-A, Aarhus University Hospital, Aarhus N, Denmark. sjo@ki.au.dk
authors.forename: S
authors.initials: S
authors.lastname: Joshi
authors.forename: R
authors.initials: R
authors.lastname: Andersen
authors.forename: B
authors.initials: B
authors.lastname: Jespersen
authors.forename: S
authors.initials: S
authors.lastname: Rittig
mesh_terms: D004351:Drug Resistance / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D009404:Nephrotic Syndrome / Q000188:drug therapy* / Q000235:genetics*; D011110:Polymorphism, Genetic; D012680:Sensitivity and Specificity; D013256:Steroids / Q000009:adverse effects / Q000627:therapeutic use*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D013256:Steroids
keywords: Gene mutations; Genetic testing; Nephrotic syndrome; Podocyte; Steroid resistance