Renal calculus is a common disease with complex etiology and high recurrence rate. Recent studies have revealed that gene mutations may lead to metabolic defects which are associated with the formation of renal calculus, and single gene mutation is involved in relative high proportion of renal calculus. Gene mutations cause changes in enzyme function, metabolic pathway, ion transport, and receptor sensitivity, causing defects in oxalic acid metabolism, cystine metabolism, calcium ion metabolism, or purine metabolism, which may lead to the formation of renal calculus. The hereditary conditions associated with renal calculus include primary hyperoxaluria, cystinuria, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis, Bartter syndrome, primary distal renal tubular acidosis, infant hypercalcemia, hereditary hypophosphatemic rickets with hypercalciuria, adenine phosphoribosyltransferase deficiency, hypoxanthine-guanine phosphoribosyltransferase deficiency, and hereditary xanthinuria. This article reviews the research progress on renal calculus associated with inborn error of metabolism, to provide reference for early screening, diagnosis, treatment, prevention and recurrence of renal calculus.
Infant ; Humans ; Hypercalciuria/genetics* ; Kidney Calculi/genetics* ; Urolithiasis/genetics* ; Nephrocalcinosis/genetics* ; Metabolism, Inborn Errors/genetics*

Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease, caused by defective transport of dibasic amino acids. Failure to thrive, hepatosplenomegaly, hematological abnormalities, and hyperammonemic crisis are major clinical features. However, there has been no reported Korean patient with LPI as of yet. We recently encountered a 3.7-yr-old Korean girl with LPI and the diagnosis was confirmed by amino acid analyses and the SLC7A7 gene analysis. Her initial chief complaint was short stature below the 3rd percentile and increased somnolence for several months. Hepatosplenomegaly was noted, as were anemia, leukopenia, elevated levels of ferritin and lactate dehydrogenase, and hyperammonemia. Lysine, arginine, and ornithine levels were low in plasma and high in urine. The patient was a homozygote with a splicing site mutation of IVS4+1G > A in the SLC7A7. With the implementation of a low protein diet, sodium benzoate, citrulline and L-carnitine supplementation, anemia, hyperferritinemia, and hyperammonemia were improved, and normal growth velocity was observed.
Amino Acid Metabolism, Inborn Errors/complications/diet therapy/*genetics ; Antifungal Agents/therapeutic use ; Antigens, CD98 Light Chains/genetics ; Asian Continental Ancestry Group/*genetics ; Carnitine/therapeutic use ; Child, Preschool ; Citrulline/therapeutic use ; Diet, Protein-Restricted ; Disorders of Excessive Somnolence/complications/*diagnosis/drug therapy ; Female ; Growth Disorders/complications/*diagnosis ; Homozygote ; Humans ; Hypercalcemia/complications/*diagnosis ; Metabolic Diseases/complications/*diagnosis ; Mutation ; Nephrocalcinosis/complications/*diagnosis ; Republic of Korea ; Sequence Analysis, DNA ; Sodium Benzoate/therapeutic use ; Vitamin B Complex/therapeutic use