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 | 英語 |
---|---|
ページ(範囲) | 2697-2701 |
ページ数 | 5 |
ジャーナル | Internal Medicine |
巻 | 55 |
号 | 18 |
DOI | |
出版ステータス | 出版済み - 2016 |
外部発表 | はい |
All Science Journal Classification (ASJC) codes
- 内科学