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Inherited Glomerular Diseases

  • Michelle N. Rheault
  • Clifford E. Kashtan
Living reference work entry

Abstract

In recent years, the determined efforts of numerous investigators and the dedicated participation of patients, families, and clinicians have led to the mapping and identification of numerous genetic loci involved in inherited glomerular disease and the functional characterization of their protein products. This information has generated important insights into the cell-cell and cell-matrix interactions required for normal glomerular structure and function, and the mechanisms by which genetically programmed disruptions in these interactions produce disease phenotypes. Additionally, our ability to predict prognosis and provide accurate genetic counseling has been greatly enhanced by this expansion of our knowledge base.

Inherited glomerular diseases can be roughly divided into two categories based on clinical presentation. Hematuria is typically the initial symptom of inherited diseases of glomerular basement membranes, with the exception of Pierson syndrome. In patients with inherited podocyte diseases, the predominant clinical abnormality at presentation is proteinuria. This chapter will focus on inherited diseases of glomerular basement membranes, particularly Alport syndrome and thin basement membrane nephropathy, which together account for 30–50 % of children with isolated glomerular hematuria referred to pediatric nephrology clinics for consultation.

Keywords

Glomerular Basement Membrane Alport Syndrome COL4A5 Mutation Thin Basement Membrane Nephropathy Pierson Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  1. 1.Department of Pediatrics, Division of Pediatric NephrologyUniversity of Minnesota Masonic Children’s HospitalMinneapolisUSA

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