高钙尿性肾结石相关遗传性疾病研究进展

Genetics of hypercalciuric stone forming diseases

高钙尿症作为肾结石中常见临床特征,是特发性高钙尿症、常染色体显性低钙血症、Bartter综合征、Dent病、遗传性低磷血症性佝偻病伴高钙尿症、婴儿高钙血症、家族性低镁血症伴高钙尿症和肾钙质沉着症、遗传性远端肾小管酸中毒等遗传性疾病的共性表征,然而这些高钙尿性肾结石相关遗传性疾病的临床表现和基因型有各自特点。本文通过系统综述其遗传学研究新进展,便于临床早期筛查和诊断,并采取合理干预措施。

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.