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
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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
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Hypercalciuria with hypophosphatemia | - Hypophosphatemic rickets with hypercalciuria
- Dent disease
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Hyperoxaluria | |
Hyperuricosuria | - Lesch-Nyhan (hypoxanthine-guanine phosphoribosyl transferase deficiency)
- Uric acid transporter mutations
- Autosomal dominant tubulointerstitial kidney disease
- Glycogen storage diseases
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Cystinuria | - SLC3A1 or SLC7A9 gene mutations
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