总结1例TRIM8（Tripartite Motif 8）基因变异导致肾病综合征、惊厥发作及发育迟缓患儿的临床及基因变异特征并进行文献复习。患儿，男，2岁6个月，因“发热5天，反复抽搐2天”入院。患儿生后因发育迟缓行康复治疗。查体提示眼睑轻度水肿。辅助检查示白蛋白24.6 g/L，多次复查尿常规尿蛋白（+++），伴镜下血尿。基因检测示TRIM8基因的c.1375C>T新发突变，患儿父母均为野生型。TRIM8基因变异可导致具有神经-肾脏特征的综合征。在儿童期起病局灶节段性肾小球硬化的患者中也应考虑对TRIM8基因进行测序，特别是如果存在癫痫、发育迟缓等神经系统异常的患者。

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.