Yamakawa Noriyuki, Oe Kengo, Yukawa Naoichiro, Murakami Kosaku, Nakashima Ran, Imura Yoshitaka, Yoshifuji Hajime, Ohmura Koichiro, Miura Yasuo, Tomosugi Naohisa, Kawabata Hiroshi, Takaori-Kondo Akifumi, Mimori Tsuneyo
Department of Rheumatology and Clinical Immunology, Kyoto University Graduate School of Medicine, Japan.
Intern Med. 2016;55(18):2697-701. doi: 10.2169/internalmedicine.55.6565. Epub 2016 Sep 15.
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.
遗传性血色素沉着症（HH）是一种通常见于北欧人的遗传性疾病，可导致铁过载综合征。日本也报告过少数病例。我们在此报告一名出现发热、关节炎、肝功能障碍和高铁蛋白血症的日本男性，他被诊断为4型HH。他在铁转运蛋白-1基因（SLC40A1）的1520A>G（His507Arg）突变位点为杂合子。他婴儿期有家族性白内障，但排除了遗传性高铁蛋白血症白内障综合征。这是首例伴有青少年白内障的4型HH报告，提示高铁蛋白血症与早期白内障形成之间存在关联。
