实用器官移植电子杂志 ›› 2023, Vol. 11 ›› Issue (4): 305-310.DOI: 10.3969/j.issn.2095-5332.2023.04.005

• 论著 • 上一篇    下一篇

COQ8B 相关肾病患儿的基因型和表型特点及肾移植预后分析

李建一 1 ,李军 1 ,傅茜 1 ,吴成林 1 ,张桓熙 1 ,徐博文 1 ,凌柳婷 1 ,陈梦玲 1 ,刘龙山 1 ,姜梦婕 2 ,裴瑜馨 2 ,蒋小云 2 ,王长希1
  

  1. 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

  • 出版日期:2023-07-20 发布日期:2023-09-12

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

Li Jianyi 1 ,Li Jun 1 ,Fu Qian 1 ,Wu Chenglin 1 ,Zhang Huanxi 1 ,Xu Bowen 1 ,Ling Liuting 1 ,Chen Mengling 1 ,Liu Longshan 1 ,Jiang Mengjie 2 ,Pei Yuxin 2 ,Jiang Xiaoyun 2 ,Wang Changxi 1   

  1. 1. Organ Transplantation Center of Sun Yat-sen University Affiliated First Hospital,Guangzhou 510080,Guangdong,China ;

    2. Pediatrics Department of Sun Yat-sen University Affiliated First Hospital,Guangzhou 510080,Guangdong,China.

  • Online:2023-07-20 Published:2023-09-12

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 分(height-for-age z-score,HAZ)为 -1.47(-1.95,-0.9),术后 1 年的中位 HAZ -1.25(-1.77,-0.7),术后第 2 年的中位 HAZ -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

Abstract:

Objective To summarize the genotype and phenotype characteristics of children with coenzyme Q8B(COQ8B)-associated nephropathy and the prognosis related to kidney transplantationin 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