Biomarkers of Kidney Disease Progression in Autosomal Dominant Polycystic Kidney Disease

Kidney International Reports, Journal Year: 2024, Volume and Issue: 9(10), P. 2860 - 2882

Published: July 14, 2024

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic disorder and fourth leading cause of failure (KF) in adults. Characterized by a reduction glomerular filtration rate (GFR) increased size, ADPKD exhibits significant variability progression, highlighting urgent need for reliable predictive biomarkers to optimize management treatment approaches. This review explores roles diverse biomarkers-including clinical, genetic, molecular, imaging biomarkers-in evaluating progression customizing treatments ADPKD. Clinical such as biological sex, predicting renal outcome

Language: Английский

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Polycystic Kidney Disease

Journal of the American Society of Nephrology, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 21, 2025

1III. Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany 2Hamburg for Kidney Health, 3Martin Zeitz Rare Diseases, 4Department II Internal Faculty Medicine and Hospital Cologne, 5Center Diseases 6Cologne Cluster Excellence on Cellular Stress Responses in Ageing-Associated Correspondence: Dr. Roman-Ulrich Müller, email: [email protected] See related article, "Circadian Clock Disruption Growth Cysts Autosomal Dominant Polycystic Disease," pages XXX–XXX.

Language: Английский

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A Rare Coexisting Presentation of Autosomal Dominant Polycystic Kidney Disease With Rapid Deterioration of Renal Function and Neurofibromatosis Type 1

Cureus, Journal Year: 2025, Volume and Issue: unknown

Published: March 2, 2025

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary disorders, characterized by progressive cyst development. Neurofibromatosis type 1 (NF1) another autosomal disorder, café-au-lait spots, neurofibromas, and multisystem involvement. We report case an 18-year-old male with ADPKD NF1, referred due to progressively worsening renal dysfunction. His initial estimated glomerular filtration rate (eGFR) was 71.9 mL/min/1.73m², MRI showing bilateral cystic enlargement (total volume: 758 mL). One year later, his eGFR declined 56.7 volume increased 10.4% over year. Tolvaptan initiated, he remains under follow-up. Mutations in PKD1/PKD2, which are responsible for ADPKD, affect intracellular signaling, including mammalian target rapamycin (mTOR) pathway, leading formation progression, while NF1 mutations overactivate Ras proteins. progression more severe than that father alone, suggesting may have accelerated enlargement. The co-occurrence extremely rare, only a few cases reported past.

Language: Английский

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Computational exploration of protein structure dynamics and RNA structural consequences of PKD1 missense variants: implications in ADPKD pathogenesis

3 Biotech, Journal Year: 2024, Volume and Issue: 14(9)

Published: Aug. 24, 2024

Language: Английский

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Computational Exploration of Protein Structure Dynamics and RNA structural Consequences of PKD1 Missense Variants: Implications in ADPKD Pathogenesis

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: March 26, 2024

Abstract Autosomal dominant polycystic kidney disease (ADPKD), a genetic disorder characterized by the formation of fluid-filled cysts within kidneys, leading to progressive renal dysfunction, is primarily caused mutations in PKD1 , gene encoding for protein polycystin-1 (PC1). Understanding structural consequences variants crucial elucidating mechanisms and developing targeted therapies. In this study, we analyzed effects nine missense variants, including c.6928G>A p.G2310R, c.8809G>A p.E2937K, c.2899T>C p.W967R, c.6284A>G p.D2095G, c.6644G>A p.R2215Q, c.7810G>A p.D2604N, c.11249G>C p.R3750P, c.1001C>T p.T334M, c.3101A>G p.N1034S on RNA structures, their interactions utilizing computational tools. We also explain these PC1 dynamics, stability, using molecular dynamics (MD) simulation. These are located at domains such as REJ domain, PKD domains, cation channel potentially compromising PC1’s function contributing ADPKD pathogenesis. Findings reveal substantial deviations structures with other proteins or RNAs structure (p.E2937K), (p.R3750P), (p.N1034S), (p.G2310R), (p.R2215Q) suggesting potential implications etiology. The study suggests that although certain may have minimal conformations, observed alterations MD simulations indicate impact highlighting importance evaluating functional considering both levels. This offers valuable perspectives utility studying through tools prioritizing understanding underlying pathogenesis therapeutic interventions. GRAPHICAL ABSTRACT

Language: Английский

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Prenatal and preimplantation testing for monogenic kidney disorders

Kidney International, Journal Year: 2024, Volume and Issue: unknown

Published: Oct. 1, 2024

Language: Английский

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