ESPN 54th Annual Meeting

ESPN 2022

Clinical and metabolic profile of Children with nephrolithiasis in Western Maharashtra


 Objective: To study the clinical profile and metabolic abnormalities in children with nephrolithiasis.

Material and methods:

 A chart review of children aged less than 18 years, diagnosed to have nephrolithiasis on ultrasonography.Details recorded were demography, history, serum biochemistry and 24 hour/ spot urine tests for metabolic workup, genetic tests and stone analysis by Fourier transform infrared spectroscopy (FTIRs) when available. 


 Of 151 records retrieved, 111 children had followed up for evaluation. Boys were predominantly affected (M: F = 2.6:1).The mean age at onset of symptoms was 57+40 months. The most common presenting complaint was gross hematuria in 61(36%); Others were abdominal pain 41(24%),urinary tract infection 26(15%) and urinary retention causing anuria 25(15%).Family history of was present in 60(40%).Anatomical defects were identified in 6 children;pelviureteric junction obstruction in 4(3%), duplex collecting system and posterior urethral valves in 1 boy each. Five children presented with acute kidney injury requiring renal replacement therapy. Obstructive calculi were present in 42(28%); most common site was pelviureteric junction in 21(50%). Metabolic evaluation available for 111 patients revealed hypercalciuria in 14(13%), hyperuricosuria in 9(8%),hyperoxaluria in 5(5%), cystinuria in 3(3%),hypocitraturia in 2(2%) and no cause was found in 76 (68%).Four patients were diagnosed as distal renal tubular acidosis.FTIRs performed in 34 children showed calcium oxalate in11(32%), uric acid in9 (26%).Genetic tests possible in 5 patients showed a mutation in GRHPR gene (primary hyperoxaluria type 2) and SLC3A43 (hypercalciuria) in one each. Three children had hyperoxaluria on 24 hour urine collections but no mutation on NGS. Recurrence of calculi was seen in 19/111patients (12%), 8 of whom had metabolic derangement on presentation. Forty-five (30%) patients required surgical intervention.


 Despite thorough evaluation, majority of the children might not have an underlying metabolic abnormality. Anatomical defects should be  suspected when evaluating children with calculi.