Posters
Hereditary Glomerular and Tubulointerstitial Kidney Diseases
October 23, 2026 | 10:00 AM - 12:00 PM
Location: Exhibit Hall A, Convention Center
Session Description
Poster Session
Posters
A Rare Concurrent Diagnosis of Autosomal Dominant Alport Syndrome in a Patient with DiGeorge Syndrome
Autosomal Dominant Alport Syndrome in Women: A Three-Patient Case Series
Transferrinuria Promotes Iron-Mediated Tubular Remodeling During CKD Progression in a Murine Alport Model
Therapeutic Efficacy of GP-051 Monotherapy and Combination Therapy with ARBs in a Severe Alport Syndrome Mouse Model
Hidden in Plain Sight: Late Diagnosis of Alport Syndrome with APOL1 High-Risk Genotype
Validation of a Surface Plasmon Resonance Assay to Quantify Circulating APOL1 Protein After Living Donor Nephrectomy
DNA Methylation Stratifies CKD Risk and Implicates Aberrant Endoplasmic Reticulum Trafficking Among Individuals with APOL1 High-Risk Genotype
Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) Screening for Modulators of APOL1 G2-Induced Cytotoxicity
Real-World Treatment Patterns Among Patients with APOL1-Mediated Kidney Disease (AMKD) in the United States
Perceived Understanding of APOL1 Genetic Testing in Black Individuals: Associations with Demographic Traits and Health-Related Beliefs
Induced Pluripotent Stem Cell (iPSC)-Derived Endothelial Cell Model for the Study of APOL1-Mediated CKD Pathogenesis
Glyceric Acid as a Metabolic Signature of Proximal Tubular Damage Induced by APOL1-G1 Variant
M1 Effect on APOL1 Cation Channel Function Is Modified by the Haplotype, Kidney Risk Genotype, and Cell Type
ONYX-101: Development of a Kidney-Targeted Dual-Vector Adeno-Associated Virus Gene Therapy Candidate for X-Linked Alport Syndrome Using NYX Capsids
Effect of Body Mass Index on CKD Progression in Siblings with Identical Alport Gene Variant: A Matched-Pair Analysis
Characteristics and Diagnostic Value of Temporal Retinal Thinning in Patients with Alport Syndrome
A Novel COL4A4 Missense Variant and a Nonsense Variant: Contrasting Presentations of Alport Syndrome
A Rare Combination: Coexistence of Dent Disease and Autosomal Dominant Alport Syndrome
Integrated Evaluation of COL4A5 Noncanonical 3′ Splice Site Variants in Alport Syndrome
Genotype-First Evaluation of COL4A3/4 Variants and Kidney Disease Risks
When the Genetic Test Is Negative but the Clinicopathologic Presentation Is Not
Two Unrelated Families Demonstrating Autosomal Dominant COL4-Related Nephropathy Across the Thin Basement Membrane-Alport Spectrum
A Case Series Highlighting Overlap Between PKD-Spectrum Disease and COL4-Related Nephropathies
Environmental Factors Drive the Risk for Kidney Failure in Autosomal Dominant Alport Syndrome: Evidence from Monozygotic Twins Raised Apart
mTOR Signaling: A Key Player in X-Linked Alport Syndrome Disease Progression
Variant Type Determines the Degree of Retinal Structural Disruption in Alport Syndrome: A TTIMax Atlas Across 37 Unique COL4A3-A5 Variants
A Novel Case of Multigenerational COL4A3/A4 Glomerulopathy Spectrum
Combined Alport and Klinefelter Syndrome: A Case Report and Literature Review
Dual Diagnosis of Gitelman Syndrome and Alport Syndrome: A Novel Case of Digenic Kidney Disease
Coexisting Myeloperoxidase (MPO)-ANCA Vasculitis and Alport Syndrome
The "Thin" Line Between FSGS and Alport Disease: A Case Series
Beyond the X Chromosome: Early-Onset FSGS in a Female Patient Associated with a TBC1D8B Variant Identified by Whole-Genome Sequencing
Shared Genetic Mechanisms Between Congenital Anomalies of the Kidney and Urinary Tract and FSGS Revealed by Whole-Exome Sequencing
Steroid-Sensitive Genetic FSGS Associated with a CD2AP Variant Achieving Sustained Remission After Rituximab: A Sibling Case Series
Primary FSGS in a Patient Who Is a Carrier of Bardet-Biedl Syndrome
PBX1 Variant-Associated Congenital Anomalies of the Kidney and Urinary Tract with Secondary FSGS Presenting in Adulthood: A Case Report
Phenotypic Expansion of Congenital Anomalies of the Kidney and Urinary Tract Due to TBX18 Variants Includes Genital Anomalies
A Case Report of Secondary FSGS Associated with Dual Genetic Variants in NIPBL and COL4A4
A Double Hit to the Podocyte: C1q Nephropathy and APOL1 High-Risk Genotype Presenting as FSGS
Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD)-APOA1 Amyloidosis Revealed by Kidney Biopsy with Parallel Genomics Approach
Relatively Common NPHS1 Variants Contribute to a Mild Steroid-Resistant Nephrotic Syndrome
PLCE1-Associated Nephrotic Syndrome: Burden Analysis and Genotype-Phenotype Correlations in a Large Multicenter Cohort
Pyridoxine Therapy for Nephrotic Syndrome Due to Sphingosine Phosphate Lyase Insufficiency Syndrome
Expanding the Phenotypic Presentation of Novel TBC1D8B Variants in Adults with Kidney Disease
Uromodulin-Related Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD-UMOD): A Case Report
Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Variant Presenting as Familial CKD Initially Suspected to Represent ADPKD
Genetically Engineered Rat Models of Autosomal Dominant Tubulointerstitial Kidney Disease-Uromodulin (ADTKD-UMOD) for Translational Research
Autosomal Dominant Tubulointerstitial Kidney Disease-Uromodulin (ADTKD-UMOD): The Irish Kidney Gene Project Experience
Calcineurin Inhibitor Therapy and Clinical Response in Patients with WT-1-Related Disorders
WT1-Associated Nephropathy Beyond Childhood: Phenotypic Spectrum and Kidney Outcomes in an International Cohort
WT1 Variants and Their Association with Podocytopathy Across the Lifespan
Genotype-Phenotype Assessment of Novel NPHS1 Missense Variants Using the HiBiT-Nephrin Evaluation System
Natural History of NPHS2 Nephropathy
Natural History Study of Patients with Proteinuric APOL1-Mediated Kidney Disease (AMKD) in BioVU and the Million Veteran Program (MVP)
From a Cystinosis Case with Severe Myopathy to an Aging-Like Cellular Phenotype