A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report.
In: International Journal of Molecular Sciences, Jg. 25 (2024-04-15), Heft 8, S. 4486-4497
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Zugriff:
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 the etiology of SRNS, leading to the identification of a genetic cause. The TRIM8 gene is expressed in various tissues, including kidney cells and the central nervous system (CNS). An association between a mutation in the TRIM8 gene and an early onset of FSGS has been proposed but is not well described. We present a 17-year-old boy with epilepsy, early mild developmental delay, a low IgG serum level, and proteinuria, secondary to FSGS. A Next-Generation Sequencing (NGS)-based analysis revealed a heterozygous de novo pathogenic variant in the TRIM8 gene (c.1200C>G, p.Tyr400Ter). TRIM8 gene sequencing should be considered in individuals with early onset of FSGS, particularly accompanied by symptoms of cortical dysfunction, such as epilepsy and intellectual disability. [ABSTRACT FROM AUTHOR]
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A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report.
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Autor/in / Beteiligte Person: | Badeńska, Marta ; Pac, Małgorzata ; Badeński, Andrzej ; Rutkowska, Karolina ; Czubilińska-Łada, Justyna ; Płoski, Rafał ; Bohynikova, Nadezda ; Szczepańska, Maria |
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Zeitschrift: | International Journal of Molecular Sciences, Jg. 25 (2024-04-15), Heft 8, S. 4486-4497 |
Veröffentlichung: | 2024 |
Medientyp: | academicJournal |
ISSN: | 1661-6596 (print) |
DOI: | 10.3390/ijms25084486 |
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