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Research
jia Rao
Children's hospital of Fudan university
Corresponding Author
ORCiD: https://orcid.org/0000-0003-2839-3419
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This work is licensed under a CC BY 4.0 License. Read Full License
Background Mutations in COQ8B as a defect of coenzyme Q10 (CoQ10) cause steroid resistant nephrotic syndrome (SRNS).
Methods To define the clinical course and prognosis of COQ8B nephropathy, we retrospective assessed the genotype, phenotype in patients with COQ8B mutations from Chinese Children Genetic Kidney Disease Database. We performed the comparing study of renal outcome following CoQ10 treatment and renal transplantation between early genetic detection and delay genetic detection group.
Results We identified 20 (5.8%) patients with bi-allelic mutations of COQ8B screening from patients with SRNS, non-nephrotic proteinuria, or CKD of unknown origin. Patients with COQ8B mutations showed a largely renal-limited phenotype presenting with proteinuria and/or advanced CKD at time of diagnosis. Renal biopsy uniformly showed FSGS. Proteinuria was decreased, whereas the renal function was preserved in five patients following CoQ10 administration combined with angiotensin-converting enzyme (ACE) inhibitor. The renal survival analysis disclosed a significantly better outcome in early genetic detection group than in delay genetic detection group (Kaplan-Meier plot and log rank test, p=0.037). Seven patients underwent deceased donor renal transplantation without recurrence of proteinuria or graft failure. Blood pressure showed decreased significantly during 6 to 12 months post transplantation.
Conclusions COQ8B mutations are one of the most common causes of adolescent-onset proteinuria and/or CKD of unknown etiology in the Chinese children. Early detection of COQ8B nephropathy following CoQ10 supplementation combined with ACEI could slow the progression of renal dysfunction. Renal transplantation in patients with COQ8B nephropathy showed no recurrence of proteinuria.
Keywords
steroid resistant nephrotic syndrome (SRNS), proteinuria, COQ8B, CoQ10, transplantation
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This is a preprint. It has not completed peer review.
Research
jia Rao
Children's hospital of Fudan university
Corresponding Author
ORCiD: https://orcid.org/0000-0003-2839-3419
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
History
CURRENT STATUS: Posted
View the published article at Molecular Genetics & Genomic Medicine.
Version 1
Posted 10 Mar, 2020
No community comments so far
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published article at Molecular Genetics & Genomic Medicine.
Background Mutations in COQ8B as a defect of coenzyme Q10 (CoQ10) cause steroid resistant nephrotic syndrome (SRNS).
Methods To define the clinical course and prognosis of COQ8B nephropathy, we retrospective assessed the genotype, phenotype in patients with COQ8B mutations from Chinese Children Genetic Kidney Disease Database. We performed the comparing study of renal outcome following CoQ10 treatment and renal transplantation between early genetic detection and delay genetic detection group.
Results We identified 20 (5.8%) patients with bi-allelic mutations of COQ8B screening from patients with SRNS, non-nephrotic proteinuria, or CKD of unknown origin. Patients with COQ8B mutations showed a largely renal-limited phenotype presenting with proteinuria and/or advanced CKD at time of diagnosis. Renal biopsy uniformly showed FSGS. Proteinuria was decreased, whereas the renal function was preserved in five patients following CoQ10 administration combined with angiotensin-converting enzyme (ACE) inhibitor. The renal survival analysis disclosed a significantly better outcome in early genetic detection group than in delay genetic detection group (Kaplan-Meier plot and log rank test, p=0.037). Seven patients underwent deceased donor renal transplantation without recurrence of proteinuria or graft failure. Blood pressure showed decreased significantly during 6 to 12 months post transplantation.
Conclusions COQ8B mutations are one of the most common causes of adolescent-onset proteinuria and/or CKD of unknown etiology in the Chinese children. Early detection of COQ8B nephropathy following CoQ10 supplementation combined with ACEI could slow the progression of renal dysfunction. Renal transplantation in patients with COQ8B nephropathy showed no recurrence of proteinuria.
Figure 1
Figure 2
Figure 3
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