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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.
Alport syndrome (AS) is a hereditary kidney disorder caused by mutations in type IV collagen genes (COL4A3, COL4A4, COL4A5). As genetic testing becomes more widely utilized, the diagnostic boundary between Alport syndrome and thin glomerular basement membrane (GBM) disease has become increasingly ambiguous. While X-linked AS (XLAS) is globally considered the most prevalent subtype, regional genotype variations in Korea remain poorly described. This study aimed to describe the distribution of AS genotypes and associated clinical features in patients from Jeju Island, based on next-generation sequencing (NGS) performed at a single center.
We retrospectively analyzed the clinical and genetic data of 39 patients from 24 families diagnosed with AS at Jeju National University Hospital between January 2008 and May 2025. NGS targeting COL4A3, COL4A4, and COL4A5 was performed in patients who presented with familial hematuria with or without chronic kidney disease (CKD). We described the frequency of specific mutations, inheritance patterns, and associated clinical manifestations including hematuria/proteinuria, CKD, and extrarenal involvement. No direct comparison was made with nationwide data.
Among the 39 patients (male:female = 17:22; median age 16.4 years), autosomal dominant AS (ADAS) was most common (51.3%), followed by X-linked AS (33.3%) and autosomal recessive AS (15.4%). A common variant, COL4A4 c.1967A>G (p.Asp656Gly), was found in 8 families (14 patients), including 2 homozygotes and 1 compound heterozygote. Additional COL4A4 variants included c.4522+6G>A and c.1323_1340del. Clinical features included microscopic hematuria/proteinuria (61.5%), CKD (15.4%), renal replacement therapy (23.1%), ocular abnormalities (15.4%), and hearing loss (10.3%).
This single-center study from Jeju Island revealed a higher prevalence of autosomal dominant inheritance and a predominance of COL4A4 variants, in contrast to the widely reported predominance of X-linked AS. While no nationwide comparison was conducted, our findings highlight the possibility of regional genetic variation in AS. Further multicenter studies are warranted to explore genotype distribution across Korea. A limitation of this study is the potential for selection bias due to its single-center, retrospective design.
