COQ8B相关肾病患儿的基因型和表型特点及肾移植预后分析  

Genotypic and phenotypic characteristics of COQ8B related nephropathy in children and analysis of renal transplant prognosis

作　　者：李建一 李军[1] 傅茜[1] 吴成林[1] 张桓熙[1] 徐博文 凌柳婷 陈梦玲 刘龙山[1] 姜梦婕[2] 裴瑜馨[2] 蒋小云[2] 王长希[1] Li Jianyi;Li Jun;Fu Qian;Wu Chenglin;Zhang Huanxi;Xu Bowen;Ling Liuting;Chen Mengling;Liu Longshan;Jiang Mengjie;Pei Yuxin;Jiang Xiaoyun;Wang Changxi(Organ Transplantation Center of Sun Yat-sen University Affiliated First Hospital,Guangzhou 510080,Guangdong,China;Pediatrics Department of Sun Yat-sen University Affiliated First Hospital,Guangzhou 510080,Guangdong,China)

机构地区：[1]中山大学附属第一医院器官移植中心,广东广州510080 [2]中山大学附属第一医院儿科,广东广州510080

出　　处：《实用器官移植电子杂志》2023年第4期305-310,共6页Practical Journal of Organ Transplantation(Electronic Version)

摘　　要：目的总结辅酶Q8B(coenzyme Q8B,COQ8B)相关肾病患儿的基因型和表型特点以及肾移植相关预后,为COQ8B相关肾病患儿的诊疗提供参考。方法回顾性分析中山大学附属第一医院2017—2022年间接受肾移植手术的COQ8B相关肾病患儿的基因型、表型和预后相关信息,患者的纳入标准为接受了下一代测序技术(next-generation sequencing,NGS)检测并且携带COQ8B的致病突变。结果18例获得COQ8B相关肾病分子诊断的患儿被纳入研究,其中13例患儿携带COQ8B的复合杂合突变,5例患儿携带COQ8B的纯合突变,c.748G>C是本地区最常见的突变位点。患儿的平均发病年龄为(9.09±2.57)岁,到达终末期肾病的平均年龄为(9.72±2.84)岁。18例患儿中有15例表现为孤立的肾病,有3例患儿出现了肾外器官受累。患儿术后的平均随访时间为31.7个月,随访期间内仅有1例发生排斥反应,无原发病复发和移植肾失功等事件发生。患儿的生长发育状况在术后也得到了一定改善,术前的中位年龄别身高z评分(height-for-age z-score,HAZ)为-1.47(-1.95,-0.9),术后1年的中位HAZ为-1.25(-1.77,-0.7),术后第2年的中位HAZ为-0.91(-1.24,-0.34)。结论COQ8B相关肾病多表现为孤立的肾病综合征,较少出现肾外器官的病变,对于已经处于晚期肾病阶段的患儿,肾移植是一种安全有效的治疗方式。Objective To summarize the genotype and phenotype characteristics of children with coenzyme Q8B(COQ8B)-associated nephropathy and the prognosis related to kidney transplantation,in order to provide reference for the diagnosis and treatment of patients with COQ8B-associated nephropathy.Methods The genotypes,phenotypes and prognosis of children with COQ8B-related nephropathy who underwent kidney transplantation in the First Affiliated Hospital of Sun Yat-sen University from 2017 to 2022 were retrospectively analyzed.The inclusion criteria of the patients were carriers of pathogenic mutation of COQ8B detected by next-generation sequencing(NGS).Results A total number of 18 children with COQ8B-associated nephropathy were included in the study,including 13 children with compound heterozygous mutation of COQ8B and 5 with homozygous mutation of COQ8B,c.748G>C was the most common mutation in this cohort.The average age of disease onset was(9.09±2.57)years,and the average age of reaching end-stage renal disease was(9.72±2.84)years.Among the 18 cases,15 cases showed isolated nephropathy and 3 cases had extrarenal organ involvement.The average follow-up time was 31.7 months,during the follow-up period,only one patient had rejection,and there was no recurrence of primary nephropathy and renal allograft failure.The growth of the children was improved after operation.The median height-for-age z-score(HAZ)before operation was-1.47(-1.95,-0.9),the median HAZ one year after operation was-1.25(-1.77,-0.7),and the median HAZ of the second year after operation was-0.91(-1.24,-0.34).Conclusion COQ8B-associated nephropathy is characterized by isolated nephrotic syndrome and less involvement of extrarenal organs.Kidney transplantation is a safe and effective treatment for children who are already in the stage of advanced nephropathy.

关 键 词：儿童肾移植 COQ8B 基因型 表型 

分 类 号：R726.9[医药卫生—儿科]