Progress in the diagnosis and treatment of hereditary nephrolithiasis and/or nephrocalcinosis in children / 国际儿科学杂志

ABSTRACT

Hereditary nephrolithiasis/nephrocalcinosis in children is a rare disease, the incidence of which is not clear for the time being. Due to the lack of typical symptoms and signs, missed diagnosis, misdi-agnosis and delayed diagnosis are very common, some patients have already progressed to end-stage renal dis-ease by the time of definite diagnosis. With the rapid development of molecular diagnostic technology, consid-erable progress have been made in this kind of disease. This article summarizes the disease classification and re-cent advances in the diagnosis and treatment of hereditary nephrolithiasis/nephrocalcinosis in children, aiming at improving clinicians' understanding of this kind of disease and providing help for its early diagnosis and treat-ment.