title: Translating genetic findings in hereditary nephrotic syndrome: the missing loops.
abstract: Nephrotic syndrome (NS) is a clinicopathological entity characterized by proteinuria, hypoalbuminemia, peripheral edema, and hyperlipidemia. It is the most common cause of glomerular disease in children and adults. Although the molecular pathogenesis of NS is not completely understood, data from the study of familial NS suggest that it is a "podocytopathy." Virtually all of the genes mutated in hereditary NS localize to the podocyte or its secreted products and the slit diaphragm. Since the completion of human genome sequence and the advent of next generation sequencing, at least 29 causes of single-gene NS have been identified. However, these findings have not been matched by therapeutic advances owing to suboptimal in vitro and in vivo models for the study of human glomerular disease and podocyte injury phenotypes. Multidisciplinary collaboration between clinicians, geneticists, cell biologists, and molecular physiologists has the potential to overcome this barrier and thereby speed up the translation of genetic findings into improved patient care.
authors: Department of Medicine and Duke Molecular Physiology Institute, Duke University Medical Center, Durham, North Carolina; and.
authors: Gentzon
authors: G
authors: Hall
authors: Department of Pediatrics and Duke Molecular Physiology Institute, Duke University Medical Center, Durham, North Carolina rasheed.gbadegesin@duke.edu.
authors: Rasheed A
authors: RA
authors: Gbadegesin
mesh_terms: D006801:Humans; D009404:Nephrotic Syndrome / Q000235:genetics* / Q000378:metabolism; D050199:Podocytes / Q000378:metabolism; D057170:Translational Research, Biomedical
keywords: gene mutation; nephrotic syndrome; podocyte