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タイトル: | A novel phenotype of a Hereditary hemochromatosis type 4 with ferroportin-1 mutation, presenting with juvenile cataracts |
著者: | Yamakawa, Noriyuki Oe, Kengo Yukawa, Naoichiro Murakami, Kosaku https://orcid.org/0000-0001-5981-4648 (unconfirmed) Nakashima, Ran Imura, Yoshitaka Yoshifuji, Hajime https://orcid.org/0000-0001-7082-4900 (unconfirmed) Ohmura, Koichiro Miura, Yasuo Tomosugi, Naohisa Kawabata, Hiroshi Takaori-Kondo, Akifumi Mimori, Tsuneyo |
著者名の別形: | 湯川, 尚一郎 井村, 嘉孝 吉藤, 元 大村, 浩一郎 川端, 浩 三森, 経世 |
キーワード: | hereditary hemochromatosis type 4 ferroportin juvenile cataracts hereditary hyperferritinemia cataract syndrome |
発行日: | 2016 |
出版者: | Japanese Society of Internal Medicine |
誌名: | Internal Medicine |
巻: | 55 |
号: | 18 |
開始ページ: | 2697 |
終了ページ: | 2701 |
抄録: | Hereditary hemochromatosis (HH) is an inherited disorder usually seen in Northern Europeans, which results in iron overload syndrome. A few cases have also been reported in Japan. We herein report a Japanese man presenting with fever, arthritis, liver dysfunction, and hyperferritinemia who was diagnosed with type 4 HH. He was heterozygous for the 1520A>G (His507Arg) mutation in the ferroportin-1 gene (SLC40A1). He had a familial cataract as an infant, but hereditary hyperferritinemia cataract syndrome was excluded. This is the first report of type 4 HH with juvenile cataracts and suggests that there is an association between hyperferritinemia and early cataract formation. |
著作権等: | © 2016 The Japanese Society of Internal Medicine. The Internal Medicine is an Open Access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/). |
URI: | http://hdl.handle.net/2433/218931 |
DOI(出版社版): | 10.2169/internalmedicine.55.6565 |
PubMed ID: | 27629970 |
出現コレクション: | 学術雑誌掲載論文等 |
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