Research progress of monogenic nephrocalcinosis / 国际外科学杂志

ABSTRACT

Nephrocalcinosis is often accompanied by kidney stone disease. In recent years, more and more nephrocalcinosis has been found to be caused by a monogenic disease, and its pathogenesis has not been fully elucidated. With the development of molecular genetics, more than 30 genes have been found to be the causative genes of nephrocalcinosis. At the same time, with the widespread development of genetic testing technology, more patients have received early diagnosis and timely intervention. This article reviews the clinical and basic research progress of monogenic nephrocalcinosis.