Kim Kristie, Araya Carlos, Brogan Ryan
College of Medicine, University of Central Florida, Orlando, Florida, USA.
Department of Pediatrics, Nemours Children's Hospital Florida, Orlando, Florida, USA.
Case Rep Pediatr. 2025 Sep 1;2025:8856638. doi: 10.1155/crpe/8856638. eCollection 2025.
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.
我们描述了一名11岁女孩的临床表现和评估情况，该女孩既往无病史报告，因间歇性膝关节疼痛由她的初级保健医生诊治。门诊X线检查发现有佝偻病相关表现，促使进一步进行血液检查评估。由于实验室检查结果异常，患者被紧急转诊至急诊科，随后被诊断为终末期肾病，伴有严重贫血、代谢性酸中毒和显著的电解质异常。尽管存在这些异常，但她血流动力学稳定，意识状态正常，体格检查仅提示左膝疼痛。已咨询肾病科，她被收入儿科重症监护病房（PICU）进行电解质补充和紧急血液透析。该病例显示了双侧肾发育不良继发终末期肾病的非典型良性表现。它强调了识别先前未被发现的先天性肾病患儿的挑战，并突出了在高危人群中早期检测的必要性，包括那些受健康社会决定因素影响的人群。
