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PAX2 Gene Mutation in Pediatric Renal Disorders-A Narrative Review
Carmen Muntean1, Camelia Chirtes2, Balazs Baczoni2
1Department of Pediatrics I, George Emil Palade University of Medicine, Pharmacy, Science and Technology of Targu Mures, 540142 Targu Mures, Romania.
Insights
Mutations in the PAX2 gene cause congenital anomalies of the kidneys and urinary tract (CAKUT) in children. This review focuses on pediatric cases with isolated renal and urinary tract disorders due to PAX2 gene mutations.
Area of Science:
- Genetics
- Developmental Biology
- Pediatric Nephrology
Background:
- The PAX2 gene is crucial for fetal urinary system development, particularly nephrogenesis.
- Mutations in PAX2 are linked to congenital anomalies of the kidneys and urinary tract (CAKUT).
- PAX2 mutations can cause syndromes involving renal and extra-renal abnormalities, like renal coloboma syndrome.
Purpose of the Study:
- To review pediatric cases with PAX2 gene mutations exclusively presenting with renal and urinary tract disorders.
- To enhance understanding of the genetic mechanisms underlying isolated CAKUT.
- To provide a comprehensive summary of the literature on PAX2-associated CAKUT in children.
Main Methods:
- Literature review of published pediatric cases.
- Inclusion criteria focused on patients with PAX2 mutations and isolated renal/urinary tract anomalies.
- Exclusion of cases with extra-renal involvement.
Main Results:
- PAX2 mutations are a significant cause of isolated CAKUT in pediatric populations.
- The spectrum of renal and urinary tract anomalies associated with PAX2 mutations is diverse.
- This review consolidates findings from previously reported pediatric cases.
Conclusions:
- PAX2 gene mutations are a key genetic factor in isolated congenital anomalies of the kidneys and urinary tract.
- Understanding PAX2's role aids in diagnosing and managing pediatric CAKUT.
- Further research into PAX2's function can reveal new therapeutic targets.
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 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.
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