From Intermittent Knee Pain to End-Stage Kidney Disease: An Atypical Presentation of Bilateral Kidney Dysplasia in an 11-Year-Old Girl.

We describe the clinical presentation and evaluation of an 11-year-old girl with no reported past medical history, seen by her primary care physician for intermittent knee pain. Outpatient X-rays revealed findings concerning for rickets, prompting further evaluation with blood work. The patient was urgently referred to the emergency department due to abnormal laboratory results and was subsequently found to be in end-stage kidney disease with severe anemia, metabolic acidosis, and significant electrolyte abnormalities. Despite these abnormalities, she was hemodynamically stable with appropriate mentation, and her physical exam was only pertinent for left knee pain. Nephrology was consulted, and she was admitted to the pediatric intensive care unit (PICU) for electrolyte repletion and emergent hemodialysis. This case demonstrates an atypically benign presentation of end-stage kidney disease secondary to bilateral kidney dysplasia. It emphasizes the challenges of recognizing children with previously undetected congenital kidney disease and underscores the need for early detection in high-risk populations, including those affected by social determinants of health.