Genetics of hypercalciuric stone forming diseases / 中华泌尿外科杂志

Hypercalciuria, as a common clinical feature of kidney stones, is a common feature of hereditary diseases such as idiopathic hypercalciuria, autosomal dominant hypocalcaemia, Bartter's syndrome, Dent disease, hereditary hypophosphataemic rickets with hypercalciuria, infantile hypercalcaemia, familial hypomagnesemia with hypercalciuria and nephrocalcinosis, hereditary distal renal tubular acidosis, However, the clinical phenotypes and genotypes of these hypercalciuric kidney stones have their own characteristics. We summarized the results of recent genetic studies on hypercalciuria to promote clinical screening, diagnosis and reasonable treatment.