title: A Novel Phenotype of a Hereditary Hemochromatosis Type 4 with Ferroportin-1 Mutation, Presenting with Juvenile Cataracts.
abstract: 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.
authors.affiliation: Department of Rheumatology and Clinical Immunology, Kyoto University Graduate School of Medicine, Japan.
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Yamakawa
authors.forename: Kengo
authors.initials: K
authors.lastname: Oe
authors.forename: Naoichiro
authors.initials: N
authors.lastname: Yukawa
authors.forename: Kosaku
authors.initials: K
authors.lastname: Murakami
authors.forename: Ran
authors.initials: R
authors.lastname: Nakashima
authors.forename: Yoshitaka
authors.initials: Y
authors.lastname: Imura
authors.forename: Hajime
authors.initials: H
authors.lastname: Yoshifuji
authors.forename: Koichiro
authors.initials: K
authors.lastname: Ohmura
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Miura
authors.forename: Naohisa
authors.initials: N
authors.lastname: Tomosugi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kawabata
authors.forename: Akifumi
authors.initials: A
authors.lastname: Takaori-Kondo
authors.forename: Tsuneyo
authors.initials: T
authors.lastname: Mimori
mesh_terms: D000328:Adult; D002386:Cataract / Q000235:genetics*; D027682:Cation Transport Proteins / Q000172:deficiency* / Q000235:genetics; D006432:Hemochromatosis / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D009154:Mutation; D010641:Phenotype; D000098742:Ferroportin
chemical_list: D027682:Cation Transport Proteins; D000098742:Ferroportin