Neeraja Kambham

Publication Details

  • Fibronectin Glomerulopathy: An Unusual Cause of Adult-Onset Nephrotic Syndrome AMERICAN JOURNAL OF KIDNEY DISEASES Nadamuni, M., Piras, R., Mazbar, S., Higgins, J. P., Kambham, N. 2012; 60 (5): 839-842

    Abstract:

    We report the case of a 50-year-old woman with nephrotic-range proteinuria and lobular glomerulopathy on kidney biopsy. Homogenous glomerular deposits were non-immune reactive, but immunofluorescence microscopy for fibronectin was strongly positive. Ultrastructurally, the deposits were granular with focal fibril formation, leading to a diagnosis of fibronectin glomerulopathy. Mutational analysis revealed a heterozygous missense mutation in fibronectin (leading to the tyrosine at amino acid 973 being replaced by cysteine [Y973C]), confirming the diagnosis. This mutation affects Hep-III, one of the heparin-binding domains of fibronectin, and results in functional abnormalities.

    View details for DOI 10.1053/j.ajkd.2012.04.029

    View details for Web of Science ID 000310508100037

    View details for PubMedID 22721928

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