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Metabolomic fingerprinting in glomerular disease-associated renal amyloidosis

Ghosh, S.; Singh, P.; Govil, S.; Verma, A.; Kala, C.; Chitkara, S.; Sengupta, S.; Thakur, A. K.

2022-09-23 nephrology
10.1101/2022.09.21.22280214 medRxiv
Show abstract

Nephrotic syndrome (NS) manifested by proteinuria is the primary clinical hallmark of amyloid deposition in the kidney. However, proteinuria is observed in other kidney disorders misleading clinicians and limiting the scope of early diagnosis. We presumed that amyloid-driven pathophysiology could result in the perturbation of downstream cellular and metabolic pathways in these patients with NS. Herein, we have diagnosed one hundred patients with clinical evidence of nephrotic syndrome. Further, the histopathological evaluation identified the presence of amyloid in eleven patients. To decipher the downstream effects underlying amyloid formation, we performed plasma metabolomic profiling of these patients. Fifteen metabolites, including different lipids, carnitines and amino acids, were found altered in the renal amyloidosis patients compared to controls. It is the first study depicting the potential of metabolomics to identify biomarkers for early diagnosis of renal amyloidosis patients.

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