ADCK4相关肾小球病3例临床特点及基因分析  

Clinical characteristics and gene analysis of 3 cases of ADCK4-associated glomerular disease

作　　者：贾莉敏[1] 窦文杰[1] 刘俊梅[1] 曾慧勤[1] 史佩佩[1] 张建江[1] JIA Li-min;DOU Wen-jie;LIU Jun-mei;ZENG Hui-qin;SHI Pei-pei;ZHANG Jian-jiang(The First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]郑州大学第一附属医院东院区儿童内科二病区,郑州450052

出　　处：《医药论坛杂志》2025年第1期54-59,65,共7页Journal of Medical Forum

基　　金：河南省高等学校重点科研项目(24A320080)。

摘　　要：目的分析含aarF结构域激酶4(aarF domain containing kinase 4,ADCK4)相关肾小球病患儿临床特征及治疗随访分析,以提高对该疾病的认识。方法回顾性分析2016年9月—2022年12月郑州大学第一附属医院诊断的3例ADCK4相关性肾小球病患儿的临床资料及基因测序结果。结果3例激素耐药肾脏病理表现为局灶阶段性肾小球硬化(focal stage glomerulosclerosis,FSGS)的患儿,例1,例2对激素联合免疫抑制剂治疗有部分效应,例3对激素联合免疫抑制剂治疗无效,3例基因检测明确存在ADCK4基因缺陷[病例1 c.532c>T和c.737(exon9)G>A,AR,复合杂合突变;病例2 ADCK基因c.448C>G和c.532C>T,AR,复合杂合突变;病例3 c.532c>T和c.737G>A,AR,复合杂合突变]。例1,例2给予大剂量辅酶Q10治疗,取得一定疗效,例3效果欠佳进入CKD3期。结论ADCK4相关肾小球病,可于儿童期各年龄段发病,病理上多表现为FSGS,激素及免疫抑制剂的疗效因人而异,辅酶Q10补充治疗对于部分患儿有一定效果,早期诊断可能效果更佳。Objective To investigate the clinical and genetic character of children with the aarF domain containing kinase 4(ADCK4)associated glomerulopathy,and to enhance the understanding of this disease.Methods The clinical data and genetic test results of 3 children with the aarF domain containing kinase 4 associated glomerulopathy in the First Affiliated Hospital of Zhengzhou University from September 2016 to December 2022.Results Among three children with focal stage glomerulosclerosis(FSGS)as the pathological manifestation of hormone-resistant kidneys,partial efficacy of hormone combined immunosuppressive therapy were seen in two children and no efficacy of this therapy was found in the third child.ADCK4 gene defects were found to exist in three children through genetic testing[Case 1:c.532c>T and c.737(exon9)G>A,AR,compound heterozygous mutation;Case 2:ADCK gene c.448C>G and c.532C>T,AR,compound heterozygous mutation;Case 3:c.532c>T and c.737G>A,AR,compound heterozygous mutation].Two cases were treated with high-dose coenzyme Q10,with some therapeutic effects seen,while one case entered the CKD phase 3 due to the poor efficacy of this therapy.Conclusion ADCK4-related glomerulopathy can occur in various age groups and is pathologically manifested as FSGS.The efficacy of hormones and immunosuppressants varies from person to person.Coenzyme Q10,as supplementary therapy,is partially effective for some children and may be more effective for children with an earlier diagnosis.

关 键 词：含aarF结构域激酶4 儿童 肾小球疾病 辅酶Q10 

分 类 号：R726.9[医药卫生—儿科]