辅酶Q2基因突变所致辅酶Q10缺乏性肾病综合征1例  

Nephrotic syndrome associated with coenzyme Q10 deficiency due to coenzyme Q2 gene mutation:a case report

作　　者：包道日娜 杨宏宇[1] 王芳[1] 周绪杰[1] 张鑫[1] 王素霞[1,2] 周福德[1] Bao Daorina;Yang Hongyu;Wang Fang;Zhou Xujie;Zhang Xin;Wang Suxia;Zhou Fude(Renal Division,Peking University First Hospital/Institute of Nephrology,Peking University/Key Laboratory of Renal Disease,Ministry of Health of China/Key Laboratory of CKD Prevention and Treatment,Ministry of Education of China/Research Units of Diagnosis and Treatment of Immune-mediated Kidney Diseases,Chinese Academy of Medical Sciences,Beijing 100034,China;Laboratory of Electron Microscopy Pathological Center,Peking University First Hospital,Beijing 100034,China)

机构地区：[1]北京大学第一医院肾内科、北京大学肾脏病研究所、卫生部肾脏疾病重点实验室慢性肾脏病防治教育部重点实验室(北京大学)、中国医学科学院免疫介导肾病诊治创新单元,北京100034 [2]北京大学第一医院病理中心电镜室,北京100034

出　　处：《中华肾脏病杂志》2023年第2期138-141,共4页Chinese Journal of Nephrology

摘　　要：该文报道1例辅酶Q(coenzyme Q,CoQ)2基因突变所致CoQ10缺乏性肾病综合征病例并进行文献复习。该患者以血尿、蛋白尿及视力下降为临床表现,予足量糖皮质激素治疗2个月余,蛋白尿无缓解。出生史无特殊,其父母非近亲婚配、均体健。全外显子组测序结果显示,CoQ2基因c.973A>G(p.T325A)和c.517C>T(p.R173C)突变,结合肾活检明确为遗传性肾病,予减停糖皮质激素后改为补充CoQ10治疗,5周后24 h尿蛋白量由6.01 g下降至1.53 g。The paper reports a case of coenzyme Q10 deficiency nephrotic syndrome associated with coenzyme Q2 gene mutation and reviews the literature on this topic.The patient presented with hematuria,proteinuria,and a diminution of vision as clinical manifestations.But the proteinuria was not relieved after sufficient doses of glucocorticoids for over 2 months.The patient′s birth history was unremarkable,and his parents were both healthy and not consanguineous.Whole exome sequencing revealed that the patient had a mutation of coenzyme Q2 gene at c.973A>G(p.T325A)and c.517C>T(p.R173C).Combined with renal biopsy pathology,the patient was diagnosed with hereditary nephropathy and started the supplements of coenzyme Q10 after stopping glucocorticoid treatments immediately.After 5 weeks of therapy,the patient's 24-h urine protein quantification decreased from 6.01 g to 1.53 g.

关 键 词：泛醌 突变 肾病综合征 辅酶Q2 辅酶Q10缺乏 遗传性肾病 

分 类 号：R692[医药卫生—泌尿科学]