Two Children With Steroid-Resistant Significant Proteinuria Due to Nonsense Mutations of the TRIM8 Gene: A Case Report and Literature Review

BACKGROUND: TRIM8 gene mutations have been reported as the genetic basis of autosomal dominant (AD) neuro-renal syndrome in children, which presents with epileptic encephalopathy, focal segmental glomerulosclerosis (FSGS), developmental delay, and mental retardation. In this study, we report the cas...

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Detalles Bibliográficos
Autores principales: Li, Xiaojie, Wei, Yaqin, Wang, Meiqiu, Jia, Lili, Shi, Zhuo, Yang, Xiao, Ju, Tao, Kuang, Qianhuining, Xia, Zhengkun, Gao, Chunlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9315245/
https://www.ncbi.nlm.nih.gov/pubmed/35903163
http://dx.doi.org/10.3389/fped.2022.918373

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9315245/
https://www.ncbi.nlm.nih.gov/pubmed/35903163
http://dx.doi.org/10.3389/fped.2022.918373

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