Genetic disorders that have been associated with nephrolithiasis in children

Urine and serum abnormalities in children with nephrolithiasis	Genetic disorders to consider
Hypercalciuria with hypercalcemia	Williams syndrome Idiopathic infantile hypercalcemia Congenital lactase deficiency Multiple endocrine neoplasia type 1 syndrome with hyperparathyroidism McCune-Albright syndrome
Hypercalciuria with normocalcemia	Bartter syndrome Hereditary distal renal tubular acidosis Wilson disease Familial hypomagnesemia with hypercalciuria and nephrocalcinosis Glucose-6-phosphatase deficiency (glycogen storage disease I, von Gierke disease) Familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Hypercalciuria with hypophosphatemia	Hypophosphatemic rickets with hypercalciuria Dent disease
Hyperoxaluria	Primary hyperoxaluria
Hyperuricosuria	Lesch-Nyhan (hypoxanthine-guanine phosphoribosyl transferase deficiency) Uric acid transporter mutations Autosomal dominant tubulointerstitial kidney disease Glycogen storage diseases
Cystinuria	SLC3A1 or SLC7A9 gene mutations

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