RRM2B基因变异致线粒体DNA耗竭综合征8A型合并肾病综合征1例并文献复习  

Mitochondrial DNA depletion syndrome 8A complicated with nephrotic syndrome caused by RRM2B gene variation:a case report and literature review

作　　者：杨丹妮 曹璐 张花婷 张建江[1] Yang Danni;Cao Lu;Zhang Huating;Zhang Jianjiang(Department of Pediatrics,the First Affiliated Hospital of Zhengzhou University,Henan Clinical Center of Pediatric Nephrology,Zhengzhou 450052,China)

机构地区：[1]郑州大学第一附属医院儿科,河南省儿童肾脏病临床诊疗中心,郑州450052

出　　处：《中华肾脏病杂志》2024年第10期818-822,共5页Chinese Journal of Nephrology

基　　金：河南省高等学校重点科研项目(24A320080)。

摘　　要：线粒体DNA耗竭综合征(mitochondrial DNA depletion syndrome,MDS)是一组由核基因突变引起线粒体DNA拷贝数量减少,影响多个组织及器官能量代谢的遗传性疾病。MDS累及肾脏时常表现为近端肾小管病变,合并肾病综合征者较为罕见。该文报告1例RRM2B基因复合杂合变异致线粒体耗竭综合征8A型(mitochondrial DNA depletion syndrome 8A,MTDPS8A)合并肾病综合征的儿童病例,患儿以癫痫、听力障碍及肾病综合征为主要临床表现,外院肾脏病理检查结果示局灶性节段性肾小球硬化(塌陷型)改变,给予糖皮质激素、免疫抑制剂、能量支持及对症治疗后疗效不佳,随访6个月内患儿肾功能持续恶化,需接受维持性腹膜透析治疗。Mitochondrial DNA depletion syndrome(MDS)is a group of genetic diseases in which the number of mitochondrial DNA copies is severely decreased due to mutations in nuclear genes and affects energy metabolism in several tissues and organs.Renal involvement of MDS is often manifested as proximal renal tubular disease,while MDS combined with nephrotic syndrome is rare.This paper report a case of child with mitochondrial DNA depletion syndrome 8A(MTDPS8A)complicated with nephrotic syndrome due to compound heterozygous variants of RRM2B gene.The child mainly presented with epilepsy,auditory dysfunction,and nephrotic syndrome as clinical manifestations.The histopathological findings indicated focal segmental glomerulosclerosis(collapsing variant).The child was treated with glucocorticoid combined with immunosuppressant,energy support and symptomatic treatment,while the effect was not significant.He continued to experience progressive deterioration of renal function during the six-month follow-up period and had a long-term peritoneal dialysis for maintenance therapy.

关 键 词：儿童 基因突变 肾病综合征 RRM2B基因 线粒体DNA耗竭综合征8A型 

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