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During the congress, E-Posters will be accessible to all participants on the congress website 24/7, as well as in the E-poster stations in the congress center.
Preparing your E-Poster
Please review the E-Poster format requirements carefully when preparing your E-Poster. Should your E-Poster not meet the mentioned requirements, it may not be displayed as described above.
E-Poster Submission Deadline
Please prepare and upload your E-Poster no later than March 14, 2026 11.59PM CET. After this date, you will no longer be able to prepare and upload your E-poster and it will not be displayed and accessible on the congress website.
Please follow the instructions below to input your abstract title.
Abstract titles should be brief and reflect the content of the abstract.
Coenzyme Q10 (CoQ10) nephropathy is a rare hereditary kidney disease caused by variants in genes such as COQ2, COQ6, and COQ8B, which are involved in the biosynthesis of CoQ10 within the mitochondrial electron transport chain. It typically presents as proteinuria, and in some cases, presents as steroid-resistant nephrotic syndrome. The clinical course is characterized by progressive kidney dysfunction, and the long-term kidney prognosis in the natural course is extremely poor. Nevertheless, patients present with a wide spectrum of phenotypic severity, ranging from mild isolated proteinuria to rapidly progressive kidney failure requiring kidney replacement therapy in early childhood. Although genotype–phenotype correlations have been suggested in several reports from Western countries, such associations in Japanese patients remain unclear, and systematic studies are limited.
We retrospectively analyzed patients genetically diagnosed with CoQ10 nephropathy at our institution between January 2014 and August 2025. Genetic analysis was performed by next-generation sequencing, targeting known causative genes of CoQ10 biosynthesis disorders. For each patient, we reviewed detailed clinical characteristics, including age at onset, degree of proteinuria, and renal survival. We also assessed the presence of extra-renal manifestations, genotype, and family history.
A total of 18 patients from 17 families were included: one with a COQ2 variant, one with a COQ6 variant, and 16 with COQ8B variant. Patients with COQ2 or COQ6 variants developed nephrotic syndrome in infancy and showed rapid disease progression. In contrast, among patients with COQ8B variants, the median age of onset of proteinuria was 7.5 years (IQR: 5–11 years), and most presented with mild to moderate proteinuria. Only one case progressed to nephrotic syndrome. No extra-renal manifestations were observed in patients with COQ8B variants. Genetically, among patients with COQ8B variants, 15 of 16 patients (94%) carried the NM_024876: c.737G>A (p. Ser246Asn) variant in at least one allele. Among those with COQ8B variant, 3 patients eventually progressed to end-stage kidney disease (ESKD), whereas most others maintained relatively stable renal function during the observation period.
In our Japanese cohort, COQ8B variants represented the predominant cause of CoQ10 nephropathy, accounting for 80% of cases. Patients with COQ2 or COQ6 variants typically presented in infancy with rapid progression, whereas those with COQ8B variants tended to develop symptoms later in childhood with a more gradual course. Although variant in the GQα5 domain have been reported to be associated with early progression to ESKD, most patients carrying the NM_024876: c.737G>A (p. Ser246Asn) variant in this region showed a relatively mild clinical course. This variant, which is frequently observed in the Japanese population, may be associated with a milder phenotype. Further accumulation of cases and long-term follow-up are warranted to clarify the clinical course and prognosis.
