ubiquinone-6 has been researched along with Proteinuria* in 2 studies
2 other study(ies) available for ubiquinone-6 and Proteinuria
| Article | Year |
|---|---|
CoenzymeQ10 therapy in two sisters with CoQ6 mutations with long-term follow-up.
Topics: Child; Follow-Up Studies; Humans; Mutation; Proteinuria; Siblings; Ubiquinone | 2019 |
CoQ10-related sustained remission of proteinuria in a child with COQ6 glomerulopathy-a case report.
Treatment of steroid resistant nephrotic syndrome is still a challenge for physicians. There are a growing number of studies exploring genetic background of steroid-resistant glomerulopathies.. We present the case of a 4-year-old girl with steroid-resistant glomerulopathy due to a COQ6 defect with no additional systemic symptoms. The disease did not respond for second-line therapy with calcineurin inhibitor, but it remitted completely after oral treatment with 30 mg/kg/d of coenzyme Q10 (CoQ10). The patient was identified to be a compound heterozygote for two pathogenic variants in COQ6 gene: a known missense substitution c.1078C > T (p.R360W) and a novel frameshift c.804delC mutation. After 12 months of CoQ10 therapy, the child remains in full remission, her physical development accelerated, frequent respiratory airways diseases subsided.. Genetic assessment of children with steroid-resistant nephrotic proteinuria enables therapy optimization. Proteinuria caused by a COQ6 gene defect can be successfully treated with CoQ10. Topics: Angiotensin-Converting Enzyme Inhibitors; Calcineurin Inhibitors; Child, Preschool; Drug Therapy, Combination; Female; Genetic Testing; Glomerulosclerosis, Focal Segmental; Glucocorticoids; Heterozygote; Humans; Mutation; Nephrosis, Lipoid; Proteinuria; Treatment Outcome; Ubiquinone | 2018 |