Article
Hereditary Lysozyme Amyloidosis Variant p.Leu102Ser Associates with Unique Phenotype.
Journal of the American Society of Nephrology : JASN - 1 Feb 2017
Nasr Samih H, Dasari Surendra, Mills John R, Theis Jason D, Zimmermann Michael T, Fonseca Rafael, Vrana Julie A, Lester Steven J, McLaughlin Brooke M, Gillespie Robert, Highsmith W Edward, Lee John J, Dispenzieri Angela, Kurtin Paul J
Abstract excerpt
Lysozyme amyloidosis (ALys) is a rare form of hereditary amyloidosis that typically manifests with renal impairment, gastrointestinal (GI) symptoms, and sicca syndrome, whereas cardiac involvement is exceedingly rare and neuropathy has not been reported. Here, we describe a 40-year-old man with renal impairment, cardiac and GI symptoms, and peripheral neuropathy. Renal biopsy specimen analysis revealed...
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