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Article

A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report.

International journal of molecular sciences - 19 Apr 2024

Badeńska Marta, Pac Małgorzata, Badeński Andrzej, Rutkowska Karolina, Czubilińska-Łada Justyna, Płoski Rafał, Bohynikova Nadezda, Szczepańska Maria

Abstract excerpt

Idiopathic nephrotic syndrome is the most common chronic glomerular disease in children. Treatment with steroids is usually successful; however, in a small percentage of patients, steroid resistance is observed. The most frequent histologic kidney feature of steroid-resistant nephrotic syndrome (SRNS) is focal segmental glomerulosclerosis (FSGS). Genetic testing has become a valuable diagnostic tool in defining...

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Identifiers

PMID: 38674071
DOI: 10.3390/ijms25084486
PMCID: PMC11050435

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