Coexistence of PYCR1-related cutis laxa and bilateral grade V vesicoureteral reflux with reflux nephropathy: A case report

PYCR1-related cutis laxa (autosomal recessive cutis laxa type IIB) is a rare inherited connective tissue disorder characterized by loose, inelastic skin, and variable multisystem involvement. While systemic and neurological manifestations have been well described in the literature, data on renal and urinary tract findings remain sparse. We report a 6-year-old girl with genetically confirmed PYCR1-related cutis laxa who presented with recurrent febrile urinary tract infections. Workup revealed bilateral grade V vesicoureteral reflux alongside a small, atrophic left kidney with cortical defects on dimercaptosuccinic acid scintigraphy, in keeping with established reflux nephropathy. Differential renal function was markedly asymmetric, with the left kidney contributing 24% and the right kidney 76% of total function. Despite the degree of unilateral parenchymal loss, estimated glomerular filtration rate and blood pressure remained within age-appropriate limits, though mild proteinuria was noted on further evaluation. Given the burden of recurrent febrile infections in the setting of high-grade bilateral reflux, she was initially managed with prophylactic nitrofurantoin. Following urology consultation surgical correction was therefore pursued, and she underwent bilateral antireflux surgery. She remained free of breakthrough urinary tract infections throughout early postoperative follow-up. The concurrence of severe vesicoureteral reflux, reflux nephropathy, and PYCR1-related cutis laxa has rarely been documented. Whether this association reflects a pathophysiological link or represents coincidental findings in a single patient is not yet clear; nonetheless, this case highlights the importance of considering underlying urological pathology in children with complex connective tissue disorders who present with recurrent urinary tract infections.