A novel phenotype of a Hereditary hemochromatosis type 4 with ferroportin-1 mutation, presenting with juvenile cataracts

Noriyuki Yamakawa, Kengo Oe, Naoichiro Yukawa, Kosaku Murakami, Ran Nakashima, Yoshitaka Imura, Hajime Yoshifuji, Koichiro Ohmura, Yasuo Miura, Naohisa Tomosugi, Hiroshi Kawabata, Akifumi Takaori-Kondo, Tsuneyo Mimori

研究成果: Article査読

8 被引用数 (Scopus)

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.

本文言語English
ページ(範囲)2697-2701
ページ数5
ジャーナルInternal Medicine
55
18
DOI
出版ステータスPublished - 2016
外部発表はい

All Science Journal Classification (ASJC) codes

  • 内科学

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