摘要目的：总结COQ6基因突变致辅酶Q肾病的临床特征、分子生物学特点及治疗疗效。方法分析2015年6月复旦大学附属儿科医院肾脏风湿科收治的1例临床确诊为COQ6基因突变致辅酶Q肾病的病史特点，实验室检查和家族史等资料。给予辅酶Q1030 mg／（ kg? d）治疗，测定尿蛋白／肌酐（mg／mg），血白蛋白，血肌酐等指标以评价其疗效。并进行相关文献复习。结果（1）患儿男，10月龄，出生后发现心脏杂音，伴生长发育落后、左眼睑下垂和四肢肌张力低下，10月龄时检查发现存在蛋白尿，不伴水肿；24 h尿蛋白1．04 g，尿蛋白／肌酐7．2，白蛋白22．5 g／L，肌酐14．0μmol／L。非近亲家族。基因检测到COQ6基因的纯合p．R360 W错义突变，为新发现的突变。患儿父母分别携带杂合p．R360W错义突变。经在线软件PolyPhen和SIFT预测，COQ6基因p．R360W错义突变为有害性突变。行辅酶Q10治疗2个月后，尿蛋白／肌酐1．3，血白蛋白36．1 g／L；治疗至3个月尿蛋白／肌酐0．01，肾病达到完全缓解；随访至治疗后12个月，出现单侧感应神经性耳聋，肾病仍维持缓解，肾功能正常，精神运动发育改善。（2）全球报道7个家系13例COQ6基因突变致肾病病例，表现为6种不同的基因突变类型。均表现为激素耐药型肾病综合征，有肾活检资料的8例：局灶节段肾小球硬化7例，弥漫系膜硬化性肾炎1例。伴有感音神经性耳聋9例，共济失调和面部畸形2例，伴惊厥2例，伴脑白质异常、肾石症和发育迟滞各1例。4例接受了辅酶Q10补充治疗，显示不同程度的疗效。结论 COQ6基因突变所致的肾脏病变表现为肾病综合征。早期辅酶Q10补充治疗有效，肾病可达到完全缓解。

abstractsObjective To summarize the clinical manifestation and molecular characteristics of COQ6 mutation induced nephrotic syndrome , and to evaluate efficacy of CoQ 10 therapy.Method Clinical data of the case with infantile nephrotic syndrome was summarized , including clinical manifestations , laboratory findings and family investigation .The patient received CoQ 10 30 mg/( kg? d ) therapy.Urine protein/creatinine ratio , serum albumin and creatinine were detected to assess the efficacy of the therapy . Result (1) The 10 months old boy was presented with nephrotic level proteinuria and hypoalbuminemia . Extra-renal manifestations included cardiovascular abnormality , motor and mental retardation and unilateral ptosis.The patient had no consanguinity .A novel homozygous p.R360W mutation in COQ6 gene was identified and confirmed by next-generation sequencing and Sanger sequencing , respectively.Family analysis showed that homozygous p.R360W mutation in COQ6 gene was inherited from his parents.Missense p.R360W mutation was damaging by prediction online PolyPhen and SIFT software .After 2 months of CoQ10 complementary therapy , the patient′s urine protein/creatinine ratio declined from 7.2 to 1.3, and decreased further to 0.01 mg/mg with normal albumin level and renal function within 3 months.Nephropathy remission was maintained and growth retardation improved significantly during the last follow-up.Nevertheless, the patient manifested with sensorineural deafness at the age of 2 years.(2) There were 6 different mutations in coenzyme Q10 biosynthesis monooxygenase 6 ( COQ6 ) in 13 individuals from 7 families by homozygosity mapping in the whole world.Each mutation was linked to early-onset SRNS with sensorineural deafness . Renal biopsy revealed FSGS in 7 cases and DMS in 1 case.Other manifestations included ataxia , seizures, facial dysmorphism , nephrolithiasis and growth retardation .Four patients received CoQ 10 supplementation and responded to the treatment .Conclusion Renal disease caused by recessive COQ 6 gene mutation was nephrotic syndrome .The patient benefited from early CoQ 10 complement and reached nephropathy remission .