Clinical aspects of WT1 and the kidney

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

For more than 30 years, WT1 mutations have been associated with complex developmental syndromes involving the kidney. Acting as a transcription factor, WT1 is expressed throughout the nephron and controls the reciprocal interactions and phenotypic changes required for normal renal development. In the adult, WT1 expression remains extremely high in the renal podocyte, and at a lower level in the parietal epithelial cells. Wt1-null mice are unable to form kidneys [1]. Unsurprisingly, WT1 mutations lead to significant abnormalities of the renal and genitourinary tract, causing a number of human diseases including syndromes such as Denys-Drash syndrome, Frasier syndrome, and WAGR syndrome. Recent methodological advances have improved the identification of WT1 mutations, highlighting its importance even in nonsyndromic renal disease, particularly in steroid-resistant nephrotic syndrome. This vast spectrum of WT1-related disease typifies the varied and complex activity of WT1 in development, disease, and tissue maintenance.

Original languageEnglish
Title of host publicationThe Wilms' Tumor (WT1) Gene
PublisherSpringer
Number of pages7
Volume1467
DOIs
Publication statusPublished - 15 Jul 2016

Publication series

NameMethods in Molecular Biology

Keywords

  • Genetic testing
  • Genitourinary syndromes
  • Glomerular sclerosis
  • Mesangial cells
  • Nephrotic syndrome
  • Renal podocyte
  • Transplantation

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