Pediatric renal stone disease is manifested as nephro/urolithiasis (UL)
and/or nephrocalcinosis (NC). Compared to adults, UL in childhood is less
common, and it is believed to be around 5% in industrialized countries, while
the incidence of NC is even lower except for critically ill premature infants
in whom it may reach 64%. The formation of UL and NC is caused by increased
concentration of relevant solutes, and their aggregations and adherence to
the renal tubules cell is facilitated by factors such as urine pH, inability
of natural crystallization inhibitors, stasis of urine as well as renal
tubule damage. UL is associated with significant morbidity because of pains,
susceptibility to urinary tract obstruction and infections, and the necessity
of surgical procedures. NC is usually asymptomatic but is frequently
progressive, and more often than UL, leads to chronic renal failure. Although
other imaging modalities can be used in the diagnosis of renal stone disease,
ultrasound has the least risk and is most cost-effective. The majority cases
of UL and NC in children are of metabolic origin and thus they are prone to
recurrence and may cause chronic renal damage. Therefore, they deserve, even
after their initial presentation a detailed metabolic evaluation. Genetic
source of renal stone disease is suspected in the following conditions: early
onset, familial prevalence, familial consanguinity, multiple or recurrent
stones, and NC. For all UL/NC etiologies early identification and
personalized treatment of the basic disorder is the most important.