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Advanced filters: Author: "Marie Claire Gubler" Clear advanced filters
  • Genetic forms of steroid-resistant nephrotic syndrome are characterized by an unremitting clinical course, resistance to treatment and a favorable outcome after transplantation. The recognition of these diseases is essential, but difficult, owing to genetic and phenotypic heterogeneity. Such difficulties have led to the proposal of a systematic step-wise approach for mutational screening.

    • Marie Claire Gubler
    News & Views
    Nature Reviews Nephrology
    Volume: 7, P: 430-431
  • Here, Dr Gubler describes the pathogenesis of disorders that affect components of the glomerular basement membrane, including type III and type IV collagen, laminin and fibronectin. Dr Gubler harnesses her considerable clinical experience to recommend diagnostic and management strategies for Alport syndrome, Pierson syndrome, nail–patella syndrome, benign familial hematuria/thin basement membrane nephropathy, and glomerulopathies caused by errant deposition of fibronectin and type III collagen.

    • Marie Claire Gubler
    Reviews
    Nature Clinical Practice Nephrology
    Volume: 4, P: 24-37