PAX2 Gene Mutation in Pediatric Renal Disorders-A Narrative Review

Int J Mol Sci. 2023 Aug 13;24(16):12737. doi: 10.3390/ijms241612737.


The PAX2 gene is a transcription factor that is essential for the development of the urinary system among other transcription factors. The role of PAX2 is highlighted from the seventh week of gestation, when it is involved in development processes and the emergence of nephrons and collecting tubes. Being an important factor in renal development, mutations of this gene can produce severe alterations in the development of the urinary tract, namely congenital anomalies of the kidneys and urinary tract. The first reported cases described with the PAX2 mutation included both renal anomalies and the involvement of other organs, such as the eyes, producing renal coloboma syndrome. Over the years, numerous cases have been reported, including those with only renal and urinary tract anomalies. The aim of this review is to present a summary of pediatric patients described to have mutations in the PAX2 gene to contribute to a better understanding of the genetic mechanism causing anomalies of the kidneys and urinary tract. In this review, we have included only pediatric cases with renal and urinary tract disorders, without the involvement of other organs. From what we know so far from the literature, this is the first review gathering pediatric patients presenting the PAX2 mutation who have been diagnosed exclusively with renal and urinary tract disorders.

Keywords: PAX2 gene; children; congenital anomalies; kidney; renal disorder; urinary tract.

Publication types

  • Review

MeSH terms

  • Child
  • Humans
  • Kidney
  • Kidney Diseases* / genetics
  • Mutation
  • Nephrons
  • PAX2 Transcription Factor* / genetics
  • Renal Insufficiency*
  • Transcription Factors


  • PAX2 protein, human
  • PAX2 Transcription Factor
  • Transcription Factors

Grants and funding

This research received no external funding.