Abstract:

To explore the clinical characteristics and mutation spectrum of TRIM8 related pediatric nephrotic syndrome, seizures and developmental retardation in a child and related literature were reviewed. A boy aged 2 years and 6 months was admitted to the hospital due to fever for 5 days and recurrent convulsions for 2 days. The child received rehabilitation training for developmental retardation after birth. Physical examination revealed the child had mild eyelid edema. Laboratory examination showed hypoalbuminaemia (albumin 24.6g/L). Repeated urinalysis indicated massive proteinuria (+++), accompanied by microscopic hematuria. Genetic testing showed the boy carried a de novo heterozygous mutation of c.1375C>T in TRIM8 gene, and his parents were wild-type. TRIM8 gene variants can lead to syndromes with neuro-renal characteristics. Sequencing of the TRIM8 gene should be considered in patients with focal segmental glomerulosclerosis that starts in childhood, especially in patients with neurological abnormalities such as epilepsy and developmental retardation.

Key words: TRIM8 gene, nephrotic syndrome, child