Minimal Change Disease (MCD), Focal and Segmental Glomerulosclerosis (FSGS), and Membranous Nephropathy (MN) are glomerular diseases that despite their rarity, account for a large fraction of prevalent ESRD. There is growing consensus that the presently employed histopathology-based classification of FSGS and MN is inadequate because it is not based on an understanding of the molecular basis of these diseases, and because it does not well predict the heterogeneous natural history or response to therapy of individuals within a given glomerular histopathological category. Given these inadequacies, it is not surprising that our therapeutic approach to these diseases is imperfect. We propose that several major barriers must be overcome before more effective interventional studies of primary non-inflammatory glomerular disease can be conducted. Among these barriers is the absence of specific biomarkers of glomerular disease that would allow refined, biologically relevant sub-classification of glomerular disease histopathology useful for defining subject inclusion and exclusion criteria in clinical studies. Such disease sub-classification might overcome the effects of study population heterogeneity that likely have complicated interpretation of past studies of these glomerular diseases. New glomerular disease biomarkers might also predict disease natural history, allow proper selection of and prediction of response to specific therapeutic intervention, allow early detection of disease, or provide indicators of disease activity. Importantly, a robust investigative infrastructure is presently lacking that would facilitate collection, cultivation, and access to human biological material and associated clinical data necessary for biomarker identification, for the identification of clinically relevant study endpoints, and for conducting pilot clinical studies that would advance the care of MCD, FSGS, and MN patients. For these reasons, we propose the establishment of a Nephrotic Syndrome RDCRN, a multidisciplinary research and education platform that brings together clinical and translational scientists and two lay research and patient education foundations, aimed at beginning to better study and educate patients with FSGS, MN, and MCD.
MCD, FSGS, and MN are rare diseases that cause serious morbidity and high mortality, generating enormous individual and societal economic burden. Creation of the Nephrotic Syndrome Rare Disease Consortium will provide a readily accessible research and education resource that will significantly advance our ability to study, classify, characterize, diagnose, and treat non-inflammatory glomerular diseases.
|Spinale, Joann M; Mariani, Laura H; Kapoor, Shiv et al. (2015) A reassessment of soluble urokinase-type plasminogen activator receptor in glomerular disease. Kidney Int 87:564-74|
|Kerlin, Bryce A; Smoyer, William E; Tsai, James et al. (2015) Healthcare burden of venous thromboembolism in childhood chronic renal diseases. Pediatr Nephrol 30:829-37|
|Sampson, Matthew G; Hodgin, Jeffrey B; Kretzler, Matthias (2015) Defining nephrotic syndrome from an integrative genomics perspective. Pediatr Nephrol 30:51-63; quiz 59|
|Moeller, Sina; Canetta, Pietro A; Taylor, Annette K et al. (2014) Lack of serologic evidence to link IgA nephropathy with celiac disease or immune reactivity to gluten. PLoS One 9:e94677|
|O'Toole, John F; Sedor, John R (2014) Kidney disease: new technologies translate mechanisms to cure. J Clin Invest 124:2294-8|
|Canetta, Pietro A; Kiryluk, Krzysztof; Appel, Gerald B (2014) Glomerular diseases: emerging tests and therapies for IgA nephropathy. Clin J Am Soc Nephrol 9:617-25|
|Gadegbeku, Crystal A; Gipson, Debbie S; Holzman, Lawrence B et al. (2013) Design of the Nephrotic Syndrome Study Network (NEPTUNE) to evaluate primary glomerular nephropathy by a multidisciplinary approach. Kidney Int 83:749-56|
|Hogan, Marie C; Johnson, Kenneth L; Zenka, Roman M et al. (2013) Subfractionation, characterization, and in-depth proteomic analysis of glomerular membrane vesicles in human urine. Kidney Int :|
|Burnworth, Bettina; Pippin, Jeff; Karna, Prasanthi et al. (2012) SSeCKS sequesters cyclin D1 in glomerular parietal epithelial cells and influences proliferative injury in the glomerulus. Lab Invest 92:499-510|
|Keller, Benjamin J; Martini, Sebastian; Sedor, John R et al. (2012) A systems view of genetics in chronic kidney disease. Kidney Int 81:14-21|
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