原发性肾小球基底膜相关肾病遗传背景与诊治
收稿日期: 2022-09-19
网络出版日期: 2022-12-06
基金资助
上海市儿童医院临床研究培育专项基金(2021R011)
Genetic background, diagnosis and treatment of glomerular basement membrane-associated kidney disease
Received date: 2022-09-19
Online published: 2022-12-06
匡新宇 . 原发性肾小球基底膜相关肾病遗传背景与诊治[J]. 临床儿科杂志, 2022 , 40(12) : 894 -898 . DOI: 10.12372/jcp.2022.22e1257
Glomerular basement membrane (GBM) is an important component of the glomerular filtration barrier. Variations in various genes encoding GBM-related proteins may lead to structural and functional abnormalities in GBM, resulting in a variety of primary glomerular diseases, such as Alport syndrome and Pierson syndrome. Insufficient clinical understanding of GBM-related diseases can lead to misdiagnosis and underdiagnosis. In this article, we will elaborate on the genetic background of primary GBM and the progress of treatment of its related diseases to improve clinicians' understanding of these diseases.
Key words： glomerular basement membrane; genetic background; renal disease; child
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