• Chunyue Feng, Qiong Wang, Jingjing Wang, Fei Liu, Huijun Shen, Haidong Fu, and Jianhua Mao.
• 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 1; 96 (47): e8880.

RationaleMitochondrial 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.Patient ConcernsHerein, we report 2 cases of children with proteinuria renal disease with ADCK4 mutation.DiagnosesProteinuria renal disease with ADCK4 mutation.InterventionsCompound 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.OutcomesThe first patient showed a decreased proteinuria after coenzyme Q10 supplementation therapy, while the other was not improved.LessonsBased 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.Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

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