[Recent developments in genetic kidney diseases]

Dtsch Med Wochenschr. 2011 May;136(19):1014-20. doi: 10.1055/s-0031-1275836. Epub 2011 May 3.
[Article in German]

Abstract

The improved understanding of genetic kidney diseases has given rise to a more detailed understanding of kidney function within the last decade. Insights into the pathophysiological principles of frequent kidney diseases - partly inherited, partly acquired - have been obtained by the investigation of rare genetic disorders and can now serve as a starting point for the development of novel therapeutic strategies. In this way various clinical multicenter trials, which are based on the observations made in basic science have been established for the very common autosomal dominant polycystic kidney disease. Furthermore, the influence of genetic aspects on frequent kidney diseases, e. g. diabetic nephropathy, is becoming more obvious. This article aims to give an overview over essential recent development in the field of genetic kidney diseases.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Adult
  • Aged
  • Alleles
  • Child
  • DNA Mutational Analysis
  • Fabry Disease / diagnosis
  • Fabry Disease / genetics
  • Fabry Disease / physiopathology
  • Genetic Testing
  • Glomerular Filtration Rate / genetics
  • Glomerular Filtration Rate / physiology
  • Glomerulosclerosis, Focal Segmental / diagnosis
  • Glomerulosclerosis, Focal Segmental / genetics
  • Glomerulosclerosis, Focal Segmental / physiopathology
  • Humans
  • Infant, Newborn
  • Kidney Diseases / diagnosis
  • Kidney Diseases / genetics*
  • Kidney Diseases / physiopathology
  • Nephritis, Hereditary / diagnosis
  • Nephritis, Hereditary / genetics
  • Nephritis, Hereditary / physiopathology
  • Nephrotic Syndrome / diagnosis
  • Nephrotic Syndrome / genetics
  • Nephrotic Syndrome / physiopathology
  • Phenotype
  • Podocytes / physiology
  • Polycystic Kidney, Autosomal Dominant / diagnosis
  • Polycystic Kidney, Autosomal Dominant / genetics
  • Polymorphism, Genetic / genetics
  • Proteinuria / diagnosis
  • Proteinuria / genetics
  • Proteinuria / physiopathology
  • Rare Diseases*
  • Sequence Analysis, DNA