COQ8B nephropathy: Early detection and optimal treatment.

ABSTRACT:

Background

Mutations in COQ8B (*615567) as a defect of coenzyme Q10 (CoQ10) cause steroid resistant nephrotic syndrome (SRNS).

Methods

To define the clinical course and prognosis of COQ8B nephropathy, we retrospectively assessed the genotype and phenotype in patients with COQ8B mutations from Chinese Children Genetic Kidney Disease Database. We performed the comparing study of renal outcome following CoQ10 treatment and renal transplantation between early genetic detection and delayed genetic detection group.

Results

We identified 20 (5.8%) patients with biallelic mutations of COQ8B screening for patients with SRNS, non-nephrotic proteinuria, or chronic kidney disease (CKD) of unknown origin. Patients with COQ8B mutations showed a largely renal-limited phenotype prese

SUBMITTER: Song X 

PROVIDER: S-EPMC7434746 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature