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.
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.