辅酶Q相关性肾病综合征4例报告并文献复习  

CLINICAL FEATURES OF COENZYME Q NEPHROPATHY:A REPORT OF FOUR CASES AND LITERATURE REVIEW

作　　者：张新[1] 张冉冉 刘娟娟 林毅[1] 邵乐平 张秋业[1] ZHANG Xin;ZHANG Ranran;LIU Juanjuan;LIN Yi;SHAO Leping;ZHANG Qiuye(Department of Pediatrics,The Affiliated Hospital of Qingdao University,Qingdao 266011,China)

机构地区：[1]青岛大学附属医院儿科,山东青岛266011 [2]临沂市妇幼保健院儿科 [3]青岛市市立医院肾内科

出　　处：《青岛大学学报（医学版）》2022年第1期145-149,共5页Journal of Qingdao University(Medical Sciences)

基　　金：国家自然科学基金资助项目(81873594)。

摘　　要：目的了解儿童辅酶Q相关性肾病综合征的临床特征,提高对该疾病的认识。方法报告4例辅酶Q相关性肾病综合征病儿的临床资料;在PubMed数据库检索相关病例进行文献复习,总结其临床表现、病理特点、基因突变及药物治疗反应等。结果本文4例病儿均为男性,发病年龄10个月~10岁;1例表现为肾病综合征样蛋白尿,余3例均为糖皮质激素(激素)耐药型肾病综合征。基因检测显示2例为ADCK4基因突变,另2例为COQ2基因突变。3例病儿予辅酶Q10治疗后随访,尿蛋白均减少;另1例未予辅酶Q10治疗,病情进展迅速,最终死亡。PubMed数据库检索出55例ADCK4基因突变及25例COQ2基因突变相关性肾病综合征病儿,分析显示辅酶Q相关性肾病综合征病儿临床多表现为激素耐药型肾病综合征,肾脏病理活检主要为局灶性节段性肾小球硬化,早期口服辅酶Q10治疗可以减轻蛋白尿。结论辅酶Q相关性肾病综合征发病早,表现为肾病综合征或肾病样蛋白尿,早期应用辅酶Q10治疗有一定的效果;ADCK4基因c.826G>C和c.1035+8C>A复合杂合突变、COQ2基因c.518G>A和c.912+1(IVS5)de1G杂合突变在激素耐药型肾病综合征中均为首次报道。Objective To investigate the clinical features of coenzyme Q nephropathy in children,and to improve the understanding of this disease.Methods The clinical data of four children with coenzyme Q nephropathy were reported,and related cases were searched in PubMed database for literature review.This disease was analyzed in terms of clinical manifestations,pathological features,gene mutation,and response to pharmacotherapy.Results All four children were boys,with an onset age of ten months to ten years,and among these children,one had nephrotic proteinuria and the other three had steroid-resistant nephro-tic syndrome.Gene detection revealed ADCK4 gene mutation in two children and COQ2 gene mutation in the other two children.Three children were treated with coenzyme Q10 and follow-up showed a reduction in urinary protein;the other child was not treated with coenzyme Q10 and the disease progressed rapidly and eventually led to death.A total of 55 cases of ADCK4 gene mutation-related nephrotic syndrome and 25 cases of COQ2 gene mutation-related nephrotic syndrome were obtained from PubMed database,and related analysis showed that most of the children with coenzyme Q nephropathy had the clinical manifestation of steroid-resis-tant nephrotic syndrome.Renal biopsy showed focal segmental glomerulosclerosis,and early oral administration of coenzyme Q10 reduced proteinuria.Conclusion Coenzyme Q nephropathy has an early onset and manifests as nephrotic syndrome or nephrotic proteinuria,and early application of coenzyme Q10 has a certain treatment effect.The complex heterozygous mutation c.826 G>C/c.1035+8 C>A of the ADCK4 gene and the heterozygous mutations c.518 G>A and c.912+1(IVS5)de1 G of the COQ2 gene are reported for the first time in steroid-resistant nephrotic syndrome.

关 键 词：泛醌 ADCK4基因 COQ2基因 肾病综合征 肾小球硬化症 局灶节段性 

分 类 号：R692[医药卫生—泌尿科学]