Abstract:

Objective

To analyze the clinical phenotypes and renal transplantation outcomes in children with Papillorenal syndrome (PAPRS) caused by PAX2 gene variations, and to propose strategies for pre-transplant risk assessment and post-transplant management strategies.

Methods

A retrospective analysis was performed on the clinical data of four pediatric patients diagnosed with PAPRS at 900th Hospital of PLA Joint Logistic Support Force between 2018 and 2024. These patients underwent kidney transplantation at other medical institutions and were subsequently followed up at our hospital. Clinical data, including genetic variant types, clinical manifestations, postoperative complications, and multi-system abnormalities, were systematically evaluated.

Results

All patients carried novel heterozygous variations in the PAX2 gene (NM_000278.5), including c.221_226dup(p.E74_T75dup), c.185A＞G (p.H62R) (not previously reported in global or domestic databases),and c.76dup (p.V26Gfs*28) (two cases). These variations were located within a hotspot mutation domain. All patients were female and were diagnosed with abnormal renal function during school age,progressing to end-stage renal disease, leading to renal transplantation during adolescence.Postoperatively, all patients experienced varying degrees of infection and exhibited extrarenal manifestations, including ocular lesions such as refractive errors, visual field abnormalities,reproductive system abnormalities such as fallopian tube or ovarian lesions, and central nervous system abnormalities such as intellectual disability, mood disorders.

Conclusions

Variations in the PAX2 gene not only impair renal function, but also result in multi-systemic involvement, with a particular focus on neuropsychological assessment. Early psychological intervention is conducive to improving adherence to long-term follow-up management after renal transplantation.

Key words: PAX2, Papillorenal syndrome, Kidney transplantation, Chronic kidney dysfunction