PAX2 Gene Mutation in Pediatric Renal Disorders-A Narrative Review.

ABSTRACT: 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 t

SUBMITTER: Muntean C 

PROVIDER: S-EPMC10454596 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature