[The genetic basis of childhood nephrotic syndrome]

Postepy Hig Med Dosw (Online). 2004:58:405-15.
[Article in Polish]

Abstract

Great progress has been made of late in understanding the mechanisms of proteinuria, the structure and function of the slit diaphragm, and the genetic background of congenital nephrotic syndromes in new borns and infants. This paper presents recent achievements of molecular genetics in unraveling the causes of inherited disorders, e.g. Finnish-type nephrotic, Denys-Drash and Frasier's syndromes, as well as sporadic focal-segmental glomerulosclerosis. A change in the routine policy used in evaluating the causes of childhood nephrotic syndrome is discussed.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Actinin / metabolism
  • Denys-Drash Syndrome / genetics
  • Frasier Syndrome / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins / metabolism
  • Mutation
  • Nephrotic Syndrome / congenital*
  • Nephrotic Syndrome / diagnosis
  • Nephrotic Syndrome / genetics*
  • Proteinuria / etiology
  • WT1 Proteins / metabolism

Substances

  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • NPHS2 protein
  • WT1 Proteins
  • nephrin
  • Actinin