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Kidney Week

ASN / Education & Meetings / Kidney Week /

Posters

Tubular, Metabolic, and Systemic Noncystic Genetic Kidney Diseases

October 24, 2026 | 10:00 AM - 12:00 PM

Location: Exhibit Hall A, Convention Center

Session Description

Poster Session

Posters

De Novo Fabry Disease in a Female Patient Presenting with Nephrotic-Range Proteinuria

Hydroxychloroquine Use Associated with Renal and Systemic Injury in Fabry Disease: A Case Series

Defining the Unique Clinicogenomic Signature of Individuals Carrying the A143T GLA Variant

Unmasking a Variant of Uncertain Significance in Fabry Disease: Report of Two Familial Cases with a Classic Phenotype

Utility of Dried Blood Spot α-Galactosidase A Activity and Globotriaosylsphingosine Measurement for Fabry Disease Screening in Patients with Hemodialysis Across Hyogo Prefecture, Japan

The Zebra in the Kidney: A Rare Diagnosis of Fabry Disease Hidden in Plain Sight

Collapsing FSGS in a Child with Fabry Disease: Causality or Coincidence?

When Isolated Proteinuria Isn't Isolated: An Index Case That Triggered a Multigenerational Diagnostic Cascade

Reassessing the Pathogenicity of the Fabry-Associated Variant GLA p.Met290Ile: Evidence from Five Patients in Three Families

followME Fabry Pathfinders Registry: ≥Five-Year Kidney, Cardiac, and Multisystem Effectiveness in Patients on Migalastat

REN-Former Identifies Candidate Genes Associated with AKI-to-CKD Tubular-State Transition Supported by Human Genetics

Genetic Variants with Discordant Effects on eGFR and Risk of CKD

NPHP1-Associated Nephronophthisis Presenting as Progressive CKD in a Young Adult with Obesity and Nondiagnostic Biopsy: A Rare Compound Heterozygous Genotype

A Hidden Salt-Wasting Tubulopathy in a Young Man with Recurrent Electrolyte Abnormalities

CKD Resulting from Biallelic AIRE Variants

Broadening the Phenotypic Spectrum of SLC34A3: A First Report of Autosomal Dominant CKD

Targeted vs. Universal Genetic Testing in Patients with CKD

From Unexplained CKD to Precision Diagnosis: A Novel In-Frame PAX2 Deletion Identified by Comprehensive Genomic Testing

CKD in SERPINA1 Carriers

Etiological Profile and Polygenic Risk Scores in Patients with Advanced CKD: Insights from a Sardinian Tertiary Center

An Unfamiliar Cause of a Familial Case: Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Causing Recurrent Gout and CKD

Effect of Oral Citrate Therapy on Urinary Biochemistry and Stone Outcomes in Patients with Primary Hyperoxaluria Type 3

Diagnostic Delay in Monogenic Kidney Stone Disease: Distribution, Determinants, and Clinical Impact

Twenty Years of Recurrent Nephrolithiasis Revealing an Atypical Heterozygous CYP24A1 Phenotype

LRP5-Associated Recurrent Nephrolithiasis: A Metabolic Stone Phenotype

Double Heterozygosity of Variants in CYP24A1 and Sucrase-Isomaltase in a Patient with Rapidly Recurrent Nephrolithiasis

Calcium Phosphate Nephrolithiasis in a Cystinuria Carrier: A Genetically "Loaded" but Biochemically Driven Stone Phenotype

One Genotype, Three Outcomes: Intrafamilial Phenotypic Variability in Primary Hyperoxaluria Type 1

From Early Stones to Silent Disease: Phenotypic Extremes in Individuals with Homozygous HOGA1 Variants

Hiding in Plain Sight: Adult CYP24A1 Deficiency Presenting with CKD, Nephrolithiasis, and Calcific Coronary Disease

Long-Term Lumasiran in a Subset of Patients Who Underwent Isolated Kidney Transplant: Data from ILLUMINATE-C

Baseline Urinary Oxalate and Lumasiran Treatment Response in the ILLUMINATE-A Study

TRIO-Exome Sequencing Identifies Candidate Disease Variants in Early-Onset Kidney Stone Formers

Primary Hyperoxaluria Type 3 in Israel: A Nationwide Cohort Study

Diagnostic Challenges in a Young Patient with Kidney Stone Disease

When Kidney Stones Tell a Genetic Story

Familial Hypocalciuric Hypercalcemia Is Not as Simple as Previously Thought: Assessment of Systemic Manifestations

Pregnancy-Associated Glucosuria: A Rare Case of GATM-Associated Fanconi Syndrome

More Than a Dent in Kidney Function

Implications for Donor Safety and Family Risk Assessment After Unexpected CLCN5-Related Dent Disease in Living Donor Evaluation

Homozygous Variant of Familial Mediterranean Fever, MEFV E148Q, Contributing to Amyloidosis in an Afebrile Japanese Patient

Adult Autosomal Dominant Pseudohypoaldosteronism Type I Identified After Neonatal Diagnosis in Offspring

Novel Pathogenic CLCNKB Variant in a Pediatric Patient with Bartter Syndrome Type III (BS3): Compound Heterozygosity Enabling Variant of Unknown Significance Reclassification

ESRD in a Patient with Tuberous Sclerosis

Progressive Polycystic Kidney Disease in an Infant with TSC2/PKD1 Contiguous Gene Syndrome

Generational Mystery Uncovered: A Case of Branchiootorenal Syndrome

Unexplained Polycythemia in a Patient with Gitelman Syndrome

Unrecognized Nephrogenic Syndrome of Inappropriate Antidiuresis in a Symptomatic Female Patient with an Activating AVPR2 Variant

Rare Identification of HbS/Hb Crete in a Patient Undergoing Pretransplant Kidney Genetic Testing

A Rare Case of Bilateral Renal Infarction in Vascular Ehlers-Danlos Syndrome

Pseudohypoaldosteronism Type IID Due to Pathogenic Variants in KLHL3, Encoding a BCR Complex

Crovalimab for Atypical Hemolytic Uremic Syndrome in Pediatric Patients: The Phase 3 COMMUTE-p Trial

Rotavirus-Triggered Complement-Mediated Atypical Hemolytic Uremic Syndrome in an Adult

Population Prevalence of Rare Atypical Hemolytic Uremic Syndrome Susceptibility Variants

Clinical Characteristics, Triggers, and Kidney Outcomes in 21 Patients with Atypical Hemolytic Uremic Syndrome

Interesting and Rare Case of RMND1 Variant in COXPD11 Disease Leading to Significant Kidney Involvement

Pathogenic Mitochondrial DNA Variants in Inherited Tubulointerstitial Kidney Disease

When Creatine Kinase (CK) Isn't Rhabdo: Persistent Asymptomatic CK and Creatinine Elevation

INF2 Pathogenic Variant and FN1 Variant of Uncertain Significance in Familial Glomerulopathy: Insights from Integrated Genotype-Phenotype Correlation

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