ASN KIDNEY WEEK 2024
Awareness steigt: Viele Beiträge zu ADTKD


12.10.2024 -  Noch nie gab es so viele Forschungsarbeiten zu Autosomal Dominanten tubulointerstitiellen Nierenerkrankungen (ADTKD) wie diesmal auf der Kidney Week der Amerikanischen Gesellschaft für Nephrologie (ASN), die vom 24. bis zum 28. Oktober in San Diego stattfindet. Deutschland ist durch die Arbeitsgruppe um Prof. Michael Wiesener aus Erlangen vertreten. Diese Aktivitäten machen Hoffnung, dass es sowohl auf dem Gebiet der Diagnostik, der Biomarker und der Therapie bald deutliche Fortschritte gibt.


Hier eine Übersicht der Abstracts:


Barr, L et al. Hiding in Plain Sight: The Diagnostic Challenge of Autosomal Dominant Tubulointerstitial Kidney Disease; Abstract: TH-PO502

Genetic Kidney Diseases: Genotypes and Phenotypes in Cases
October 24, 2024 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 10:00 AM


Riella, C et al. Genotype-Phenotype Correlations in Combined Kidney Histopathology and Genetic Testing on a 385-Gene Kidney Disease Panel. Abstract: FR-PO656

Genetic Kidney Diseases: Cohort Studies - Genetic Associations and Diagnoses
October 25, 2024 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 10:00 AM


Mesnard, L et al. Systematic Screening of ADTKD-MUC1 27dupC Variant through Exome Sequencing. Abstract: FR-PO670

Genetic Kidney Diseases: Cohort Studies - Genetic Associations and Diagnoses
October 25, 2024 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 10:00 AM


Pais, T et al. Autosomal Dominant Tubulointerstitial Kidney Diseases. Abstract: FR-PO671

Genetic Kidney Diseases: Cohort Studies - Genetic Associations and Diagnoses
October 25, 2024 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 10:00 AM


Schaeffer, C et al. Identification of Pathogenetic Pathways in Autosomal Dominant Tubulointerstitial Kidney Disease Due to Mutations in REN. Abstract: SA-PO631

Genetic Kidney Diseases: Models, Mechanisms, and Therapies
October 26, 2024 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 10:00 AM


Fang, Y et al. Mesencephalic Astrocyte-Derived Neurotrophic Factor (MANF) Is Indispensable for Maintaining Mitochondrial Homeostasis in Uromodulin-Associated CKD. Abstract: SA-PO632

Genetic Kidney Diseases: Models, Mechanisms, and Therapies
October 26, 2024 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 10:00 AM


Morgan, KY et al. Treatment of Autosomal Dominant Tubulointerstitial Kidney Disease Uromodulin (ADTKD-UMOD) with Antisense Oligonucleotides. Abstract: SA-PO643

Genetic Kidney Diseases: Models, Mechanisms, and Therapies
October 26, 2024 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 10:00 AM


Cratere, MG et al. Ccr2 Targeting Does Not Ameliorate Disease Phenotype in a Model of UMOD-Related Autosomal Dominant Tubulointerstitial Kidney Disease. Abstract: SA-PO644

Genetic Kidney Diseases: Models, Mechanisms, and Therapies
October 26, 2024 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 10:00 AM


Wolf, MT et al. Developing New Therapies for Autosomal Dominant Tubulointerstitial Kidney Disease Caused by Uromodulin Mutations by Screening a Small Molecule Library. Abstract: SA-PO645

Genetic Kidney Diseases: Models, Mechanisms, and Therapies
October 26, 2024 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 10:00 AM


Schwarz, H et al. Characterization and Regulation of the Disease-Causing Mucin 1 Frameshift Protein in Patient-Derived Cells Affected by Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD)-MUC1. Abstract: SA-PO646

Genetic Kidney Diseases: Models, Mechanisms, and Therapies
October 26, 2024 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 10:00 AM


Moreno, D et al. An Unusual Case of CKD and Kidney Cysts: It's All in the Family. Abstract: PUB272

1201 Genetic Diseases of the Kidneys: Cystic
Publication Only


Li, M et al. Atypical ADPKD Due to Complex Genotypes of Both PKD1 and HNF1B Pathogenic Variants: An Educational Case Report. Abstract: PUB285

1201 Genetic Diseases of the Kidneys: Cystic
Publication Only


Tran, TD et al. HNF1B Mutation Misdiagnosed as Polycystic Kidney Disease. Abstract: PUB287

1201 Genetic Diseases of the Kidneys: Cystic
Publication Only



Yanik, A et al. Answering the Call for Genetic Testing: Recurrent Hypomagnesemia Secondary to the Gitelman-Like ADTKD-HNF1. Abstract: PUB300

1201 Genetic Diseases of the Kidneys: Cystic
Publication Only


Quelle:

www.asn-online.org

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