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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  • Additional Information
    • Source:
      Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
    • Publication Information:
      Original Publication: Basel, Switzerland : MDPI, [2000-
    • Subject Terms:
      Nephrotic Syndrome*/*congenital; Nephrotic Syndrome*/genetics ; Nephrotic Syndrome*/drug therapy ; Glomerulosclerosis, Focal Segmental*/genetics ; Glomerulosclerosis, Focal Segmental*/drug therapy ; Nerve Tissue Proteins*; Humans ; Male ; Adolescent ; Mutation ; Carrier Proteins/genetics
    • Abstract:
      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.
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    • Contributed Indexing:
      Keywords: TRIM8 gene mutation; children; dialysis; neurological complications; steroid-resistant nephrotic syndrome
    • Accession Number:
      0 (TRIM8 protein, human)
      0 (Carrier Proteins)
      0 (Nerve Tissue Proteins)
    • Subject Terms:
      Nephrotic syndrome, idiopathic, steroid-resistant
    • Publication Date:
      Date Created: 20240427 Date Completed: 20240427 Latest Revision: 20240507
    • Publication Date:
      20250114
    • Accession Number:
      PMC11050435
    • Accession Number:
      10.3390/ijms25084486
    • Accession Number:
      38674071