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

Research progress on monogenic inherited glomerular diseases with central nervous system symptoms

至今为止,已报道约500种单基因遗传性肾脏病,其中50多个基因与单基因孤立性或综合征性肾病综合征的发病相关,这些基因大多在肾小球足细胞中表达。神经系统症状为综合征性肾病综合征常见的肾外表现,各种研究发现足细胞和神经元在形态和功能方面存在联系。该综述总结了同时出现肾小球和中枢神经系统病变的单基因遗传病的遗传学进展及临床特点,有助于提高临床医生对该类疾病的了解,认识基因诊断技术对共病筛查的重要性,降低漏诊、误诊率。

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.