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

WANG Ying; HE Qing-Nan

doi:10.7499/j.issn.1008-8830.2312054

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Chinese Journal of Contemporary Pediatrics ›› 2024, Vol. 26 ›› Issue (6) : 652-658. DOI: 10.7499/j.issn.1008-8830.2312054

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

WANG Ying, HE Qing-Nan

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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.

Key words

Glomerular disease / Central nervous system / Monogenic inherited disease

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WANG Ying, HE Qing-Nan. Research progress on monogenic inherited glomerular diseases with central nervous system symptoms[J]. Chinese Journal of Contemporary Pediatrics. 2024, 26(6): 652-658 https://doi.org/10.7499/j.issn.1008-8830.2312054

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