FOUR CASES OF NEPHROPATHY IN CHILDREN WITH COENZYME Q10 DEFICIENCY INDUCED BY DIFFERENT GENE MUTATIONS AND LITERATURE REVIEW

Wei Qu, WenYan Huang^*, Guang-Hua Zhu, Ying Wu, Yulin Kang, Sheng Hao, Xiao-Ling Niu, Ping Wang

Department of Nephrology and Rheumatology, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai 200062, P.R. China

Objective: To analyze the clinical characteristics, molecular biological characteristics and therapeutic effect of children with coenzyme Q (CoQ) nephropathy induced by different gene mutations, and review relevant literature. 

Methods: The medical history, laboratory examination, treatment and prognosis of 4 cases clin-ically diagnosed with CoQ deficiency induced by different gene mutations admitted to the Department of Renal Rheumatology of our hospital from January 2017 to January 2020 were collected and analyzed, including 3 cases of CoQ8 mutation and 1 case of CoQ6 mutation. 

Results: All of the 4 children with CoQ10 deficiency had a family history, and through renal biopsy, the pathology type was identified as FSGS, mostly associated with steroid resistance. Among them, homozygous mutation occurred at a young age and had obvious symptoms. While CoQ8 heterozygous mutation caused severe renal tubular lesions and early renal failure. All of the 4 mutations belonged to locus mutations. 

Conclusion: Different gene mutations can lead to nephrotic syndrome, mostly manifested as steroid-resistant FSGS, but the clinical phenotypes and progression of CoQ deficiency induced by different gene mutations vary with symptoms. Early CoQ10 supplement therapy has a good curative effect on children with CoQ nephropathy, but in the event of severe renal injury, the progression of the disease should be controlled with conventional drugs, such as cyclosporine and tacrolimus.