Research progress on monogenic inherited glomerular diseases with central nervous system symptoms
10.7499/j.issn.1008-8830.2312054
- VernacularTitle:伴中枢神经系统症状的单基因遗传性肾小球疾病的研究进展
- Author:
Ying WANG
1
;
Qing-Nan HE
Author Information
1. 中南大学湘雅二医院儿科,湖南长沙 410007
- Keywords:
Glomerular disease;
Central nervous system;
Monogenic inherited disease
- From:
Chinese Journal of Contemporary Pediatrics
2024;26(6):652-658
- CountryChina
- Language:Chinese
-
Abstract:
To date,approximately 500 monogenic inherited kidney diseases have been reported,with more than 50 genes associated with the pathogenesis of monogenic isolated or syndromic nephrotic syndrome.Most of these genes are expressed in podocytes of the glomerulus.Neurological symptoms are common extrarenal manifestations of syndromic nephrotic syndrome,and various studies have found connections between podocytes and neurons in terms of morphology and function.This review summarizes the genetic and clinical characteristics of monogenic inherited diseases with concomitant glomerular and central nervous system lesions,aiming to enhance clinicians'understanding of such diseases,recognize the importance of genetic diagnostic techniques for comorbidity screening,and reduce the rates of missed diagnosis and misdiagnosis.
