CoQ10-related sustained remission of proteinuria in a child with COQ6 glomerulopathy—a case report

Background 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. Case diagnosis/treatment We present the case of a 4-year-old girl with steroid-resistant glomeru...

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Published in:Pediatric nephrology (Berlin, West) West), 2018-12, Vol.33 (12), p.2383-2387
Main Authors: Stańczyk, Małgorzata, Bałasz-Chmielewska, Irena, Lipska-Ziętkiewicz, Beata, Tkaczyk, Marcin
Format: Article
Language:English
Subjects:
Brief Report
Calcineurin
Calcineurin inhibitors
Care and treatment
Case reports
Case studies
Children
Coenzyme Q10
Frameshift mutation
Glomerulonephritis
Kidney diseases
Medicine
Medicine & Public Health
Nephrology
Nephrotic syndrome
Pediatric diseases
Pediatrics
Proteinuria
Remission
Remission (Medicine)
Ubiquinones
Urology
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Summary:Background 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. Case diagnosis/treatment 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. Conclusions 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.
ISSN:0931-041X
1432-198X
DOI:10.1007/s00467-018-4083-3