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, misdiagnosis and delayed diagnosis are very common, some patients have already progressed to end-stage renal disease by the time of definite diagnosis.With the rapid development of molecular diagnostic technology, considerable progress have been made in this kind of disease.This article summarizes the disease classification and recent 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 treatment.