Volume 61, Issue 3, Pages (March 2002)

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Volume 61, Issue 3, Pages 907-912 (March 2002) Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family Sophie Valleix, Séverine Drunat, Jean-Baptiste Philit, Daniel Adoue, Jean-Charles Piette, Dominique Droz, Brigitte MacGregor, Denis Canet, Marc Delpech, Gilles Grateau Kidney International Volume 61, Issue 3, Pages 907-912 (March 2002) DOI: 10.1046/j.1523-1755.2002.00205.x Copyright © 2002 International Society of Nephrology Terms and Conditions

Figure 1 Pedigree of the family with sicca syndrome and renal amyloidosis. Subjects with sicca syndrome or signs of renal disease are indicated by solid symbols. Subject I-2 indicated with half solid symbol is presumed to have died of uremia. Identification of the W64R lysozyme variant by direct sequencing. Sequence chromatograms of sense strands from proband IV-2 is represented. Double peaks of T and C at the first nucleotide position of the codon TGG with the sense primer are shown in the proband. Kidney International 2002 61, 907-912DOI: (10.1046/j.1523-1755.2002.00205.x) Copyright © 2002 International Society of Nephrology Terms and Conditions

Figure 2 Salivary gland biopsy from the son of the proband. Anti-lysozyme antibody. Indirect immunoperoxidase. Staining of the amyloid deposits along the glandular tubules, the vessel walls and the interstitial tissue of the minor salivary gland (×250). Kidney International 2002 61, 907-912DOI: (10.1046/j.1523-1755.2002.00205.x) Copyright © 2002 International Society of Nephrology Terms and Conditions

Figure 3 Renal biopsy from a cousin of the proband. Anti-lysozyme antibody. Indirect immunoperoxidase. Intensive staining of the glomerular and vascular amyloid deposits. Note the fixation or the antibody on some of the proximal tubular cells. (×250). Kidney International 2002 61, 907-912DOI: (10.1046/j.1523-1755.2002.00205.x) Copyright © 2002 International Society of Nephrology Terms and Conditions

Figure 4 Mass/charge spectrum of wild-type human lysozyme purified by ion exchange chromatography from a urine sample. Kidney International 2002 61, 907-912DOI: (10.1046/j.1523-1755.2002.00205.x) Copyright © 2002 International Society of Nephrology Terms and Conditions