TRIM8基因突变所致局灶节段性肾小球硬化和神经发育综合征研究进展

doi:10.12280/gjszjk.20230263

摘要/Abstract

摘要：

局灶节段性肾小球硬化和神经发育综合征（focal segmental glomerulosclerosis and neurodevelopmental syndrome，FSGSNEDS）是一种由染色体10q24.32上编码三结构域蛋白8的TRIM8基因突变导致的罕见常染色体显性遗传病，以发育迟缓、肾脏疾病和癫痫为主要特征，发病后通常会发展至终末期肾病。FSGSNEDS患者表型差异较大，相关研究较少，截至2023年9月15日，共报道了24例病例，确诊主要依靠基因检测。目前FSGSNEDS尚无特定治疗手段，主要是针对性的支持治疗，癫痫发作的患者通常对癫痫药物耐药，肾脏异常多为激素耐药型，而早期肾移植预后较好。本文综述FSGSNEDS的研究进展，以进一步提高临床医师对该病的认识。

关键词: 肾小球硬化症，局灶节段性, 神经发育障碍, TRIM8基因, 癫痫, 肾病, 诊断, 治疗

Abstract:

Focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS) is a rare autosomal dominant disease caused by the mutation of TRIM8 gene encoding tripartite motif protein 8 on chromosome 10q24.32, which is characterized by developmental delay, renal diseases and epilepsy. FSGSNEDS often progresses to end-stage renal disease after the illness sets in. The phenotype of patients varies greatly, while there are few related studies. A total of 24 cases have been described until September 15, 2023. The definite diagnosis mainly depends on gene testing. At present, there is no specific therapy for FSGSNEDS, and the treatment methods are mainly targeted in the supportive care. Patients usually presented pharmaco-resistant epilepsy, and renal abnormalities were resistant to steroid therapy, whereas optimistic prognosis was expected undergoing early renal transplantation. This article reviews the advances in FSGSNEDS, in order to further improve the understanding of this disease.

Key words: Glomerulosclerosis, focal segmental, Neurodevelopmental disorders, TRIM8 gene, Epilepsy, Kidney system diseases, Diagnosis, Therapy

邓泉锋, 辛敏, 夏来硕, 王一帆, 刘金秀. TRIM8基因突变所致局灶节段性肾小球硬化和神经发育综合征研究进展[J]. 国际生殖健康/计划生育杂志, 2023, 42(6): 513-518.

DENG Quan-feng, XIN Min, XIA Lai-shuo, WANG Yi-fan, LIU Jin-xiu. Research Progress of Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome Caused by the Mutation of TRIM8 Gene[J]. Journal of International Reproductive Health/Family Planning, 2023, 42(6): 513-518.

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