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-associatednephropathy. Methods The genotypes，phenotypes and prognosis of children with COQ8B-relatednephropathy 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 of18 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 commonmutation 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 and3 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. Thegrowth 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.

Key words:

Pediatric kidney transplantation, COQ8B, Genotype, Phenotype

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。

关键词:

儿童肾移植 , COQ8B , 基因型 , 表型