儿童罕见肾脏病诊治现状及展望

张琰琴; 王芳; 丁洁

doi:10.12376/j.issn.2097-0501.2022.03.002

儿童罕见肾脏病诊治现状及展望

doi: 10.12376/j.issn.2097-0501.2022.03.002

北京大学第一医院儿科，北京 100034

基金项目:

儿科遗传性疾病分子诊断与研究北京市重点实验室 BZ0317

国家重点研发计划精准医学研究重点专项课题 2016YFC0901505

详细信息

通信作者:
丁洁，E-mail：djnc_5855@126.com

中图分类号: R726.9;R593.3
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- 被引次数: 0
出版历程
- 收稿日期: 2022-05-30
- 录用日期: 2022-06-14
- 网络出版日期: 2022-09-06

The Status Quo and Prospects of Diagnosis and Treatment of Rare Kidney Disease in Children

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China

Funding:

Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases BZ0317

National Key Research and Development Program of China 2016YFC0901505

More Information

Corresponding author: DING Jie, E-mail: djnc_5855@126.com

摘要

摘要: 儿童罕见肾脏病是导致儿童慢性肾脏病、肾衰竭的重要疾病构成，其中大部分是遗传性肾脏病，占儿童慢性肾脏病的29.7%~52.1%。近十多年以来，随着二代测序技术在临床的广泛应用，提高了儿童罕见肾脏病的诊断能力。2018年公布的中国《第一批罕见病目录》进一步全面推动和促进了中国儿童罕见肾脏病的诊治和研究，同时儿童罕见肾脏病的诊治也面临诸多挑战，如基因变异致病性判断、缺乏监测疾病进展的生物标志物、缺少治疗药物等。今后儿童罕见肾脏病的诊断和治疗需要患者、临床医生、药物研发企业以及政府不同部门的共同努力，进一步促进研究进展向临床应用的快速转化，以满足儿童罕见肾脏病患者的诊治需求。
- 罕见病 /
- 遗传性肾脏病 /
- 儿童 /
- 诊断 /
- 治疗
Abstract: Rare kidney diseases are important causes of chronic kidney disease (CKD) in children. The majority of rare kidney diseases in children are hereditary kidney diseases, accounting for about 29.7% to 52.1% of children with CKD. Next-generation sequencing has been widely used in clinical diagnosis in the past decade, leading to the improvement of the diagnosis of hereditary kidney diseases. In 2018, China announced the first list of rare diseases and greatly enhanced the diagnosis, treatment and research of rare diseases in China, including rare kidney disease. Meanwhile, China faces great challenges in the diagnosis and treatment of hereditary kidney diseases in Children, including the assessment of pathogenicity of gene variants, the lack of biomarkers for disease progression and therapy efficacy, lack of drugs, and others. The future lies in the cooperation between patients, physicians, researchers, and health policy markers, and the fast translation from research finding to clinical application, so as to meet the demand from the children with rare kidney diseases in China.
- rare kidney disease /
- hereditary kidney disease /
- children /
- diagnosis /
- therapy
注释:

作者贡献：丁洁长期主持罕见病和儿童肾脏病研究工作，推动中国儿童罕见肾脏病诊断和防治能力的提高，对本文的撰写进行指导及修改；张琰琴收集和整理儿童罕见肾脏病的诊断和治疗资料，为论文主笔；王芳参与本文的撰写指导及修改。

利益冲突：所有作者均声明不存在利益冲突。

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