Kidney transplantation in end-stage chronic kidney disease pediatric patients with PAX2 gene mutation: A case series report
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Abstract
Chronic kidney disease (CKD) is not uncommon in the pediatric population and is most frequently associated with glomerular disorders and congenital anomalies of the urinary tract, with potential contributions from genetic mutations. The PAX2 gene plays a critical role in renal development and morphogenesis. Mutations in PAX2 are relatively prevalent and are primarily implicated in both renal and ocular abnormalities. In this report, we present a case series of four pediatric patients with confirmed PAX2 mutations, all of whom were diagnosed at the end stage of CKD. These patients underwent temporary renal replacement therapy using either hemodialysis or peritoneal dialysis prior to receiving kidney transplantation. Following transplantation, all cases showed favorable clinical and laboratory outcomes, with marked improvement in renal function. Notably, one patient (case 2) exhibited significant catch-up growth in physical development post-transplantation. These findings support the conclusion that kidney transplantation is an effective and high-benefit therapeutic option for children with end-stage CKD, particularly those with underlying PAX2 gene mutations.
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Keywords
PAX2, Kidney Transplantation, End-Stage Chronic Kidney Disease
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