Pediatric Calculi: Cause, Prevention and Medical Management

Cesare M. Scoffone; Cecilia M. Cracco


Curr Opin Urol. 2018;28(5):428-432. 

In This Article

The Importance of Contemplating the Genetic Component

Other risk factors for pediatric nephrolithiasis may be genetic. A family history of stone disease may be reported in 30–80% of cases (especially in areas where renal stones are endemic, with clusters due to the high percentage of consanguineous marriages).[15,16,23,24] Hereditary causes of kidney stones are rare tubulopaties or metabolic disorders with early renal stone production, generally during the first year of life, and a high risk of developing progressive chronic kidney disease if not adequately diagnosed and treated (adenine phosphoribosyltransferase deficiency, Dent's disease, cystinuria, familial hypomagnesaemia with hypercalciuria and nephrocalcinosis etc.).[25] Causative single mutations in at least 30 genes can cause monogenic forms by autosomal recessive, autosomal dominant and X-linked transmission; 14 monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis (considered 'idiopathic' in the past).[26–28]