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Pediatric Nephrology

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Open Access 01-12-2018 | Brief Report

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

Authors: Małgorzata Stańczyk, Irena Bałasz-Chmielewska, Beata Lipska-Ziętkiewicz, Marcin Tkaczyk

Published in: Pediatric Nephrology | Issue 12/2018

Abstract

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.

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Title: CoQ10-related sustained remission of proteinuria in a child with COQ6 glomerulopathy—a case report
Authors: Małgorzata Stańczyk
Irena Bałasz-Chmielewska
Beata Lipska-Ziętkiewicz
Marcin Tkaczyk
Publication date: 01-12-2018
Publisher: Springer Berlin Heidelberg
Published in: Pediatric Nephrology / Issue 12/2018
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-018-4083-3

ACC 2024 Congress

Springer Medicine

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

Abstract

Background

Case diagnosis/treatment

Conclusions

ACC 2024 Congress

Springer Medicine

Abstract

Background

Case diagnosis/treatment

Conclusions

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