Expanding the Phenotypic Presentation of Novel TBC1D8B Variants in Adults with Kidney Disease (KIDNEY WEEK 2026) - Oct 2, 2026 - Abstract #FR-PO0144; Pres time: Oct 23, 2026; 10:00 AM - 12:00 PM; Location: Exhibit Hall A, Convention Center; "We report 3 cases with unique presentations: two cases of adult-onset ESKD without a prior history of NS, and one case of steroid resistant NS (SRNS) with a dramatic response to rituximab...The presence of other very small number of hemizygotes in gnomad suggest the unique nature of this loss-of-function variant in this gene, rather than benignity. Future research should explore the mechanistic pathways and genotype-phenotype correlations beyond traditional NS Clinical and genetic description of case series"
Clinical • IO biomarker • Cardiovascular • Chronic Kidney Disease • Focal Segmental Glomerulosclerosis • Glomerulonephritis • Hypertension • Nephrology • Renal Disease
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Duangporn Saepian; Sansanee Thotsiri; Chagriya Kitiyakara; Janewit Wongboonsin
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