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|Title:||A novel phenotype of a Hereditary hemochromatosis type 4 with ferroportin-1 mutation, presenting with juvenile cataracts|
Murakami, Kosaku https://orcid.org/0000-0001-5981-4648 (unconfirmed)
Yoshifuji, Hajime https://orcid.org/0000-0001-7082-4900 (unconfirmed)
|Author's alias:||湯川, 尚一郎|
|Keywords:||hereditary hemochromatosis type 4|
hereditary hyperferritinemia cataract syndrome
|Publisher:||Japanese Society of Internal Medicine|
|Journal title:||Internal Medicine|
|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.|
|Rights:||© 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/).
|Appears in Collections:||Journal Articles |
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