Feng Chunyue, Wang Qiong, Wang Jingjing, Liu Fei, Shen Huijun, Fu Haidong, Mao Jianhua
Department of Nephrology, The Children Hospital of Zhejiang University School of Medicine, Hangzhou Department of Nephrology, The Second Hospital of Jiaxing Municipal, Jiaxing, Zhejiang Province, China.
Medicine (Baltimore). 2017 Nov;96(47):e8880. doi: 10.1097/MD.0000000000008880.
Mitochondrial nephropathy has a poor prognosis and often progresses to the end-stage renal disease. Renal pathology often is focal segmental glomerulosclerosis (FSGS) and does not respond to steroid therapy or immunosuppressive therapy. Some patients are benefited from the therapy of coenzyme Q10, which affect the synthesis pathway of coenzyme Q10.
Herein, we report 2 cases of children with proteinuria renal disease with ADCK4 mutation.
Proteinuria renal disease with ADCK4 mutation.
Compound heterozygous mutation in ADCK4 gene were detected with next-generation sequencing and confirmed by Sanger sequencing. Both of the patients were given coenzyme Q10 supplementation therapy.
The first patient showed a decreased proteinuria after coenzyme Q10 supplementation therapy, while the other was not improved.
Based on the cases we reported and from the literature, recognition of ADCK4 mutation through early and accurate genetic screening could be helpful in avoiding unnecessary toxicities and in preventing complications arising in mitochondrial nephropathy.
线粒体肾病预后不良，常进展为终末期肾病。肾脏病理表现常为局灶节段性肾小球硬化（FSGS），对类固醇治疗或免疫抑制治疗无反应。一些患者从辅酶Q10治疗中获益，这影响了辅酶Q10的合成途径。
在此，我们报告2例患有蛋白尿性肾病且伴有ADCK4突变的儿童病例。
伴有ADCK4突变的蛋白尿性肾病。
采用下一代测序检测到ADCK4基因的复合杂合突变，并通过桑格测序进行确认。两名患者均接受了辅酶Q10补充治疗。
第一名患者在接受辅酶Q10补充治疗后蛋白尿减少，而另一名患者没有改善。
基于我们报告的病例以及文献，通过早期准确的基因筛查识别ADCK4突变有助于避免不必要的毒性反应，并预防线粒体肾病中出现的并发症。
