Pediatric Nephrology

, Volume 30, Issue 1, pp 51–63

Defining nephrotic syndrome from an integrative genomics perspective

Educational Review


Nephrotic syndrome (NS) is a clinical condition with a high degree of morbidity and mortality, caused by failure of the glomerular filtration barrier, resulting in massive proteinuria. Our current diagnostic, prognostic and therapeutic decisions in NS are largely based upon clinical or histological patterns such as “focal segmental glomerulosclerosis” or “steroid sensitive”. Yet these descriptive classifications lack the precision to explain the physiologic origins and clinical heterogeneity observed in this syndrome. A more precise definition of NS is required to identify mechanisms of disease and capture various clinical trajectories. An integrative genomics approach to NS applies bioinformatics and computational methods to comprehensive experimental, molecular and clinical data for holistic disease definition. A unique aspect is analysis of data together to discover NS-associated molecules, pathways, and networks. Integrating multidimensional datasets from the outset highlights how molecular lesions impact the entire individual. Data sets integrated range from genetic variation to gene expression, to histologic changes, to progression of chronic kidney disease (CKD). This review will introduce the tenets of integrative genomics and suggest how it can increase our understanding of NS from molecular and pathophysiological perspectives. A diverse group of genome-scale experiments are presented that have sought to define molecular signatures of NS. Finally, the Nephrotic Syndrome Study Network (NEPTUNE) will be introduced as an international, prospective cohort study of patients with NS that utilizes an integrated systems genomics approach from the outset. A major NEPTUNE goal is to achieve comprehensive disease definition from a genomics perspective and identify shared molecular drivers of disease.


Transcriptome Genome Epigenome Proteome Nephrotic syndrome NEPTUNE 

Copyright information

© IPNA 2014

Authors and Affiliations

  1. 1.Division of Nephrology, Department of Pediatrics and Communicable DiseasesUniversity of Michigan Medical SchoolAnn ArborUSA
  2. 2.Department of PathologyUniversity of Michigan Medical SchoolAnn ArborUSA
  3. 3.Division of Nephrology, Department of Internal Medicine and Department of Computational Medicine and BioinformaticsUniversity of Michigan Medical SchoolAnn ArborUSA

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