Kidney failure in a child with Pierpont syndrome: a case report highlight challenges in kidney replacement therapy

Abstract Background Pierpont syndrome is a rare autosomal dominant disorder caused by pathogenic variants in TBL1XR1 gene, characterized by distinctive craniofacial features, plantar lipomatosis, and neurodevelopmental disorders. Urological malformations were reported, but signifcant kidney function impairment has never been described in previous cases. Case presentation We report an 8-year-old girl with bilateral dysplastic kidneys identified in neonatal period and progression to kidney failure, requiring peritoneal dialysis from age four. Subsequent genetic evaluation confirmed a diagnosis of Pierpont Syndrome. Her course was complicated by recurrent inguinal hernia, peritoneal dialysate leakage, and respiratory compromise related to central and obstructive apnoea. She has been enlisted for kidney transplantation. Conclusion Although causality cannot be established, the concurrence of bilateral dysplastic kidneys and kidney failure in this rare genetic disorder raises important clinical questions. The case also highlights the importance of mutlidisciplinary care in dialysis and transplant planning. Further studies are required to clarify the potential role of TBL1XR1 gene in kidney development and long-term outcomes in Pierpont syndrome.