title: Renal amyloidosis caused by apolipoprotein A-II without a genetic mutation in the coding sequence.
abstract: Although the majority of renal amyloidosis is caused by either acquired monoclonal immunoglobulin light-chain amyloidosis or reactive systemic amyloid A, some cases are caused by hereditary amyloidosis. Apolipoprotein A-II (apoAII) amyloidosis is a rare form of hereditary amyloidosis and cannot be diagnosed by a routine examination. Thus, the prevalence and etiology of apoAII amyloidosis are uncertain. In humans, a genetic mutation in the stop codon of apoAII is considered to be a cause of amyloid fibril formation. We report on a 68-year-old man who presented with proteinuria by apoAII amyloidosis without family history. His proteinuria gradually increased to 6 g/day within 1 year. A renal biopsy showed amyloid deposition in the glomeruli, however, acquired monoclonal immunoglobulin light-chain amyloidosis and reactive systemic amyloid A were ruled out. Immunohistochemistry revealed apoAII deposition in the glomeruli, but DNA sequencing did not identify any genetic mutation in the coding sequence of apoAII. Here, we report a case of apoAII amyloidosis without a genetic mutation in the coding sequence and discuss the etiology of apoAII amyloidosis.
authors: Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan. morizanr@da2.so-net.ne.jp.
authors: Ryuji
authors: R
authors: Morizane
authors: Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.
authors: Toshiaki
authors: T
authors: Monkawa
authors: Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.
authors: Konosuke
authors: K
authors: Konishi
authors: Department of Pathology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.
authors: Akinori
authors: A
authors: Hashiguchi
authors: Department of Diagnostic Medicine, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.
authors: Mitsuharu
authors: M
authors: Ueda
authors: Department of Diagnostic Medicine, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.
authors: Yukio
authors: Y
authors: Ando
authors: Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.
authors: Hirobumi
authors: H
authors: Tokuyama
authors: Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.
authors: Koichi
authors: K
authors: Hayashi
authors: Apheresis and Dialysis Center, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.
authors: Matsuhiko
authors: M
authors: Hayashi
authors: Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.
authors: Hiroshi
authors: H
authors: Itoh
mesh_terms: D000368:Aged; D000686:Amyloidosis / Q000235:genetics / Q000473:pathology*; D016633:Apolipoprotein A-II / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry; D007668:Kidney / Q000378:metabolism; D007674:Kidney Diseases / Q000473:pathology*; D008297:Male
chemical_list: D016633:Apolipoprotein A-II