• Jameela A Kari, Mohamed A Shalaby, Faiza A Qari, Amr S Albanna, and Khalid A Alhasan.
• From the Department of Pediatrics (Kari, Shalaby), Pediatric Nephrology Center of Excellence; from the Department of Medicine (Qari), King Abdulaziz University, from King Abdullah International Medical Research Center (Albanna), King Saud Bin Abdulaziz University for Health Sciences, Jeddah, and from the Department of Pediatric (Alhasan), College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia.
• Saudi Med J. 2022 Jan 1; 43 (1): 81-90.

ObjectivesTo study childhood nephrolithiasis and nephrocalcinosis caused by metabolic disorders, distal renal tubular acidosis (dRTA), and familial hypomagnesemia, hypercalciuria, and nephrocalcinosis (FHHNC).MethodsWe retrospectively evaluated 86 children presented over 10 years (2011-2021), with nephrolithiasis (89%) and nephrocalcinosis (11%) caused by metabolic disorders (62%), FHHNC (21%), and dRTA (17%).ResultsThe mean age at discovery was 72.7 months. The underlying metabolic etiologies included hyperoxaluria (38%), cystinuria (32%), hypercalciuria (24%), and hyperuricosuria (6%). Genetic testing was carried out for 23 patients. Hyperoxaluria was typically treated medically (75%). However, the majority progressed to end-stage kidney disease (ESKD). Most children with cystinuria, hypercalciuria, and hyperuricosuria required medical and surgical intervention. Patients with FHHNC typically presented with nephrocalcinosis. Genetic testing revealed Claudin-16 mutations in 7 children. Patients often progressed to stage II-IV chronic kidney disease (61%) and ESKD (6%). Patients with dRTA typically presented with nephrocalcinosis (80%), as well as poor weight gain and failure to thrive (86%), and medical treatment included sodium bicarbonate and potassium replacement. Despite nephrocalcinosis progression, most patients had normal renal function (53%), although the remaining 47% progressed to chronic kidney disease (none reached ESKD).ConclusionChildhood nephrolithiasis is mainly related to metabolic disorders and is associated with poor renal outcomes. Nephrocalcinosis and nephrolithiasis have poor outcomes when associated with FHHNC, while nephrocalcinosis associated with dRTA has relatively good renal outcomes.Copyright: © Saudi Medical Journal.

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