COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.

ABSTRACT:

Background

Nephrotic syndrome can be caused by a subgroup of mitochondrial diseases classified as primary coenzyme Q₁₀ (CoQ₁₀) deficiency. Pathogenic COQ2 variants are a cause of primary CoQ₁₀ deficiency and present with phenotypes ranging from isolated nephrotic syndrome to fatal multisystem disease.

Case-diagnosis/treatment

We report three pediatric patients with COQ2 variants presenting with nephrotic syndrome. Two of these patients had normal leukocyte CoQ₁₀ levels prior to treatment. Pathologic findings varied from mesangial sclerosis to focal segmental glomerulosclerosis, with all patients having abnormal appearing mitochondria on kidney biopsy. In two of the three patients treated with CoQ₁₀ supplementation, the n

SUBMITTER: Starr MC 

PROVIDER: S-EPMC5990461 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature