Genetics of hypercalciuric stone forming diseases
10.3760/cma.j.cn112330-20220310-00104
- VernacularTitle:高钙尿性肾结石相关遗传性疾病研究进展
- Author:
Guanyi WANG
1
;
Sheng LI
;
Gang LI
;
Tongzu LIU
;
Hua XU
Author Information
1. 武汉大学中南医院泌尿外科 武汉大学中南医院生物样本库 肿瘤精准诊疗技术与转化医学湖北省工程研究中心，武汉 430071
- Keywords:
Kidney calculi;
Hypercalciuria;
Ggenetics;
Systematic review
- From:
Chinese Journal of Urology
2022;43(5):393-396
- CountryChina
- Language:Chinese
-
Abstract:
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.
