TRIM8基因缺陷相关肾病综合征、惊厥发作及发育迟缓1例报告  

TRIM8 gene related pediatric nephrotic syndrome,seizures and developmental retardation:a case report

作　　者：宋沅瑾 王一冰 封东宁 孙莉莉 李斐 孙清 SONG Yuanjin;WANG Yibing;FENG Dongning;SUN Lili;LI Fei;SUN Qing(Department of Nephrology and Immunology,Qingdao Women and Children’s Hospital,Qingdao 266000,Shandong,China)

机构地区：[1]青岛市妇女儿童医院肾脏免疫科,山东青岛266000

出　　处：《临床儿科杂志》2024年第4期351-354,共4页Journal of Clinical Pediatrics

基　　金：青岛市医疗卫生B类重点学科建设项目。

摘　　要：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.

关 键 词：TRIM8基因 肾病综合征 儿童 

分 类 号：R726.9[医药卫生—儿科] R725.9[医药卫生—临床医学]