Genetics of proteinuria: an overview of gene mutations associated with nonsyndromic proteinuric glomerulopathies

Adv Chronic Kidney Dis. 2011 Jul;18(4):273-89. doi: 10.1053/j.ackd.2011.06.003.


Heritable causes of proteinuria are rare and account for a relatively small proportion of all cases of proteinuria affecting children and adults. Yet, significant contributions to understanding the mechanistic basis for proteinuria have been made through genetic and molecular analyses of a small group of syndromic and nonsyndromic proteinuric disorders which are caused by mutations encoding structural components of the glomerular filtration barrier. Technological advances in genomic analyses and improved accessibility to mutational screening at clinically approved laboratories have facilitated diagnosis of proteinuria in the clinical setting. From a clinical standpoint, it may be argued that a genetic diagnosis mitigates exposure to potentially ineffective and harmful treatments in instances where a clear genotype-phenotype correlation exists between a specific gene mutation and treatment nonresponsiveness. However, cautious interpretation of risk may be necessitated in cases with phenotypic heterogeneity (eg, variability in clinical or histological presentation). This review summarizes gene mutations which are known to be associated with proteinuric glomerulopathies in children and adults.

Publication types

  • Review

MeSH terms

  • Adult
  • Animals
  • Apolipoprotein L1
  • Apolipoproteins / genetics
  • Autoantibodies / genetics
  • Child
  • Complement System Proteins / genetics
  • Female
  • Glomerulosclerosis, Focal Segmental / genetics
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics
  • Lipoproteins, HDL / genetics
  • Male
  • Membrane Proteins / genetics
  • Mice
  • Molecular Motor Proteins / genetics
  • Mutation*
  • Myosin Heavy Chains / genetics
  • Nephrotic Syndrome / genetics
  • Proteinuria / genetics*
  • Rats


  • APOL1 protein, human
  • Apolipoprotein L1
  • Apolipoproteins
  • Autoantibodies
  • Intracellular Signaling Peptides and Proteins
  • Lipoproteins, HDL
  • MYH9 protein, human
  • Membrane Proteins
  • Molecular Motor Proteins
  • NPHS2 protein
  • nephrin
  • Complement System Proteins
  • Myosin Heavy Chains

Supplementary concepts

  • Segmental glomerulosclerosis