Atypical clinical presentation and management of urinary stone disease in non-verbal non-ambulatory children

Abstract

Management of kidney stones primarily depends on various factors such as the presence of urinary tract obstruction, pain, stone size, location, impact on renal function, and the existence of infection. Renal colic is the classic presentation of an obstructive kidney stone. However, in this study, we present a cohort of non-verbal non-ambulatory (NVNA) patients who exhibit a distinct and uncommon presentation of kidney stones due to their medical conditions. Information about kidney stone disease in this gropup of complex pediatric patients is, scarce and their associated risk factors are not well understood. Therefore, we aim to summarize the clinical presentation, and management challenges in this unique group of NVNA patients to identify potential variables for prospective studies. A retrospective chart review was completed for all NVNA patients seen at the pediatric multidisciplinary kidney stone clinic between July 2020 to August 2022. Demographic variables, clinical presentation data, metabolic evaluation, radiological imaging, and surgical management was included for analysis. A total of 224 pediatric patients were referred to the multidisciplinary stone clinic. Of those, 27 were identified to be NVNA. The most common primary diagnosis was Cerebral Palsy followed by Lennox-Gastaut syndrome. Average age at first kidney stone presentation was 11.5 years±5.7 years. An obstructing stone was diagnosed in 18 (66%) patients, 4 (22.2%) of these presented with sepsis. Average stone burden was 9.2mm (±5.8mm). Of the obstructing stones, 13 (72%) were in the kidney. All patients with an obstructing stone underwent surgical management with retrograde endoscopic approach. Metabolic 24-h-urine analysis was completed in 24 (89%) patients. 17 (62%) had an elevated urine density, 15 (55%) demonstrated calcium oxalate supersaturation, 12 (44%) met criteria for acidosis, and 7 (26%) had significant hypocitraturia. NVNA patients represent a unique cohort whose clinical presentation is atypical. Limited ability to express symptoms makes early detection difficult to recognize. Twenty two percent of patients present with sepsis as their first manifestation of an acutely obstructing kidney stone. Pain is subjectively interpreted by caregivers and is an uncommon symptom. Our cohort demonstrates common risk factors for stones including propensity for chronic dehydration, slow urinary tract transit, ineffective bladder emptying, G-tube feeding, and lithogenic medications. NVNA pediatric patients have atypical kidney stone clinical presentation. Awareness of this unique group of patients should support future collaborative studies to focus on understanding these atypical presentations and reflect on improving management.