PAX2 in human kidney malformations and disease

Abstract

Human PAX2 mutations have been associated with abnormalities in the developing and adult kidney ranging from congenital abnormalities of the kidney and urinary tract (CAKUT) to oncogenic processes. Defining the relationship of PAX2 to human renal disease requires an appreciation of its fundamental role in renal development. Given the highly conserved nature of the PAX2 gene in vertebrates, it is not surprising that much of our understanding of PAX2 involvement in renal disease has been derived from animal models. The following review will outline the current evidence supporting involvement of PAX2 in the pathologic processes involving the kidney.