Kidney Week

Abstract: TH-PO0586

Integrated Spatial Lipidomic and Proteomic Analysis by Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry Imaging in Thin Basement Membrane Disease and Alport Syndrome: A Pilot Investigation

Session Information

• Monogenic Kidney Diseases: Glomerular
  November 06, 2025 | Location: Exhibit Hall, Convention Center
  Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

• 1201 Genetic Diseases of the Kidneys: Monogenic Kidney Diseases

Authors

• Vischini, Gisella, Nephrology, Dialysis and Kidney Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy

Gisella Vischini, MD, MS, PhD

• Bindi, Greta, Department of Medicine and Surgery, Proteomics and Metabolomics Unit, University of Milano-Bicocca, Vedano al Lambro, Italy

Greta Bindi, PhD

• Aiello, Valeria, Nephrology, Dialysis and Kidney Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy

Valeria Aiello, MD, PhD

• Monza, Nicole, Department of Medicine and Surgery, Proteomics and Metabolomics Unit, University of Milano-Bicocca, Vedano al Lambro, Italy

Nicole Monza, PhD

• Berti, Gian Marco, Department of Medical and Surgical Science (DIMEC), Alma Mater Studiorum - University of Bologna, Bologna, Italy

Gian Marco Berti, MD

• Shelly Porto, Natalia, Department of Medicine and Surgery, Proteomics and Metabolomics Unit, University of Milano-Bicocca, Vedano al Lambro, Italy

Natalia Shelly Porto, PhD

• Smith, Andrew J., Department of Medicine and Surgery, Proteomics and Metabolomics Unit, University of Milano-Bicocca, Vedano al Lambro, Italy

Andrew J. Smith, PhD

• Capelli, Irene, Department of Medical and Surgical Science (DIMEC), Alma Mater Studiorum - University of Bologna, Bologna, Italy

Irene Capelli, MD

• L'Imperio, Vincenzo, Department of Medicine and Surgery, Proteomics and Metabolomics Unit, University of Milano-Bicocca, Vedano al Lambro, Italy

Vincenzo L'Imperio, MD

• La Manna, Gaetano, Department of Medical and Surgical Science (DIMEC), Alma Mater Studiorum - University of Bologna, Bologna, Italy

Gaetano La Manna, MD, PhD

Background

Thin basement membrane disease (TBMD) and Alport syndrome (AS) are inherited glomerular diseases. This pilot study aimed to investigate lipidomic and proteomic profiles in patients with TBMD, AS, and healthy controls with normal renal function using Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry Imaging (MALDI-MSI).

Methods

We analyzed kidney tissue samples from 12 participants (n=4 per group: TBMD, AS, healthy controls, Fig.1). Spatial lipidomic and proteomic analyses were performed using MALDI-MSI. Statistical analyses were conducted to identify differential molecular profiles.

Results

Unlike proteomic analysis, lipidomic profiling showed distinct clustering, separating healthy controls from AS patients. Specific lipid signals were more abundant in healthy controls than in AS patients. TBMD patients exhibited a binary pattern: those with a lipidomic profile similar to AS showed a stronger family history of the disease. Integrating the spatial lipidomic and proteomic datasets, multi-omic analysis demonstrated a cluster encompassing AS and healthy control patients, with TBMD patients distributed within this cluster. (Fig2)

Conclusion

This pilot study suggests potential alterations in lipidomic profiles distinguishing AS from healthy controls, while TBMD patients display a heterogeneous pattern. Multi-omic analysis identified a specific molecular signature that requires validation in larger cohorts to elucidate its potential diagnostic or prognostic value, particularly in TBMD.

Funding

• Clinical Revenue Support

Digital Object Identifier (DOI)

• doi: 10.1681/ASN.2025s3dnmr8g