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

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.

SUBMITTER: Stanczyk M 

PROVIDER: S-EPMC6208703 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature