【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。更多还原

【Abstract】 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.更多还原