Metabolic assessment of Polycystic Kidney Disease

Kidney diseases are one of the leading causes of mortality and pose a huge health challenge. Autosomal dominant polycystic kidney disease (ADPKD) is the commonest multisystemic, monogenic inherent kidney disorder which is characterised by progressive enlargement of renal volume due to massively developed fluid-filled bodies called ‘cyst’ and renal insufficiency. It is genetically heterogeneous disorder caused by mutation in polycystic kidney gene 1 and 2. Diagnosis of ADPKD disease is challenging due to wide spectrum of clinical manifestations and is based on genetic diagnosis, imaging and histopathological evaluation. However there are no specific diagnosis methods available till date. Thus, there is a need for a metabolic biomarker for ADPKD. This may aid not only in the diagnosis but also be used in the in the follow up of these patients. The approach for finding such a marker could be based on proteomics, metabolomics and gene expression analysis. Metabolomics is the omics technique which help in identification of small molecular weight metabolite that changes in particular disease compare with healthy control. It also paints a broad picture of multiple pivotal metabolic pathways and complex gene networks. Therefore, the aim of the present study is to investigate the complete metabolic profile of urine and blood plasma samples from patients with ADPKD, their associated family members, patients with potential to have ADPKD and controls using NMR and LCMS spectroscopy.