摘要
儿童遗传性肾结石/肾钙质沉着症是一类罕见病,发病率暂不明确,由于缺乏典型的症状及体征,临床漏诊、误诊及诊断延迟十分常见,部分患者在明确诊断时已进展至终末期肾脏病。随着分子诊断技术的发展,该类疾病的研究取得了长足进展。该文主要从儿童遗传性肾结石/肾钙质沉着症的疾病分类及目前的诊疗进展等方面进行总结,旨在提高临床医生对该类疾病的认识,为其早期诊疗提供帮助。
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.
作者
计晓露(综述)
徐虹(审校)
Ji Xiaolu;Xu Hong(Department of Nephrology, Children′s Hospital of Fudan University,Shanghai Kidney Development & Pediatric Kidney Disease Research Center, Shanghai 201102, China)
出处
《国际儿科学杂志》
2019年第9期652-656,共5页
International Journal of Pediatrics
关键词
肾结石
肾钙质沉着症
儿童
Nephrolithiasis
Nephrocalcinosis
Children
