Clinical follow-up of 2 families with glomerulopathy caused by COQ8B gene variants and literature review

Clinical follow-up of 2 families with glomerulopathy caused by COQ8B gene variants and literature review

BackgroundPrimary coenzyme Q10 (CoQ10) deficiency is an autosomal recessive genetic disease caused by mitochondrial dysfunction. Variants in Coenzyme Q8B (COQ8B) can cause primary CoQ10 deficiency. COQ8B-related glomerulopathy is a recently recognized glomerular disease that most often presents as s...

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Bibliographic Details
Main Authors: Lei Zhang, Gentzon Hall, Peitong Han, Chunzhen Li, Jieyuan Cui
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Pediatrics
Subjects:
COQ8B variant
glomerulopathy
steroid-resistant nephrotic syndrome
focal segmental glomerulosclerosis
autosomal recessive
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1378083/full
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