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COQ8B nephropathy: Early detection and optimal treatment
Xiaoxiang Song1,2, Xiaoyan Fang1,3,4, Xiaoshan Tang1,3,4
1Department of Nephrology, Children's Hospital of Fudan University, National Pediatric Medical Center of China, Shanghai, China.
Molecular Genetics & Genomic Medicine
|June 17, 2020
Summary
Mutations in COQ8B cause steroid resistant nephrotic syndrome (SRNS). Early detection and Coenzyme Q10 (CoQ10) treatment improve kidney outcomes in children with COQ8B nephropathy.
Area of Science:
- Genetics
- Nephrology
- Biochemistry
Background:
- Mutations in the COQ8B gene cause defects in coenzyme Q10 (CoQ10) biosynthesis.
- These defects are a significant cause of steroid-resistant nephrotic syndrome (SRNS).
Purpose of the Study:
- To characterize the clinical presentation and prognosis of COQ8B nephropathy.
- To compare renal outcomes between early and delayed genetic detection groups.
- To evaluate the efficacy of CoQ10 treatment and renal transplantation.
Main Methods:
- Retrospective analysis of genotype and phenotype in Chinese pediatric patients with COQ8B mutations.
- Comparison of renal outcomes following CoQ10 treatment and transplantation.
- Assessment of early versus delayed genetic detection impacts.
Main Results:
- COQ8B mutations were identified in 5.8% of patients with SRNS, proteinuria, or unknown chronic kidney disease (CKD).
- Patients presented with proteinuria and/or advanced CKD, uniformly showing focal segmental glomerulosclerosis on biopsy.
- CoQ10 plus ACE inhibitor improved proteinuria and preserved renal function in some patients; early detection significantly improved renal survival.
- Renal transplantation was successful without recurrence in seven patients.
Conclusions:
- COQ8B mutations are a common cause of adolescent-onset proteinuria/CKD in Chinese children.
- Early genetic detection and CoQ10 supplementation with ACE inhibitors can slow renal dysfunction progression.
- Renal transplantation is a viable option with no recurrence of proteinuria in COQ8B nephropathy.
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