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

• Main Authors: Xiaojie Li (Author), Yaqin Wei (Author), Meiqiu Wang (Author), Lili Jia (Author), Zhuo Shi (Author), Xiao Yang (Author), Tao Ju (Author), Qianhuining Kuang (Author), Zhengkun Xia (Author), Chunlin Gao (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

BackgroundTRIM8 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 cases...