Dataset Information
Metabolomic Profiling of Renal Cyst Fluid in Advanced ADPKD: Insights from Dialysis and Transplantation Cohorts
Ontology highlight
ABSTRACT: Background: Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary disorder characterized by progressive renal cyst formation, often leading to end-stage kidney disease (ESKD). While urinary metabolomics in ADPKD has been extensively studied, the composition of renal cyst fluid, particularly in advanced stages, remains largely unexplored. Methods: We conducted a comprehensive metabolomic analysis of renal cyst fluid from 26 ADPKD patients (20 on dialysis, six with kidney transplants) using ¹H-NMR spectroscopy and mass spectrometry. Cysts were clustered based on NMR measurements, and differences were analyzed across groups defined by renal function status, cyst volume and cyst fluid sodium concentrations. Results: Metabolomic profiling revealed significant differences between cyst fluid compositions from dialysis patients and transplant recipients. Transplant recipients exhibited elevated levels of proteinogenic amino acids such as leucine, isoleucine, valine and alanine, with concentrations 2-3-fold higher than physiological serum levels. Conversely, dialysis patients had higher levels of myoinositol (334 ± 101 µM vs 108 ± 74 µM in transplant recipients), creatinine, sucrose, τ-methylhistidine, trigonelline and sarcosine. Despite intra- and interindividual variability, cyst fluid from the same patient displayed significant homogeneity. Interestingly, metabolomic profiles were not altered by cyst size. Conclusion: This first systematic metabolomic analysis of renal cyst fluid in advanced ADPKD reveals distinct metabolic signatures linked to renal function, offering new insights into cystogenesis and disease progression. Although the data were obtained from advanced-stage disease, they provide novel insights into the pathophysiology of ADPKD and highlight the potential of renal cyst fluid metabolomics for identifying biomarkers and therapeutic targets.
INSTRUMENT(S): Nuclear Magnetic Resonance (NMR) -, Liquid Chromatography MS - positive - reverse phase
PROVIDER: MTBLS12372 | MetaboLights | 2025-07-07
REPOSITORIES: MetaboLights
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Publications
Metabolomic profiling of renal cyst fluid in advanced ADPKD: insights from dialysis and transplantation cohorts.
Metabolomics : Official journal of the Metabolomic Society 20250626 4
<h4>Background</h4>Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disorder characterized by progressive renal cyst formation, often leading to end-stage kidney disease (ESKD). In contrast to the urinary metabolome in ADPKD, the composition of renal cyst fluid remains largely unexplored.<h4>Methods</h4>We conducted a comprehensive metabolomic analysis of renal cyst fluid from 26 ADPKD patients (20 on dialysis, six with kidney transplants) using ¹H-NMR sp ...[more]
