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

doi:10.2169/internalmedicine.55.6565

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

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11 Citations (Scopus)

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.

Original language	English
Pages (from-to)	2697-2701
Number of pages	5
Journal	Internal Medicine
Volume	55
Issue number	18
DOIs	https://doi.org/10.2169/internalmedicine.55.6565
Publication status	Published - 2016
Externally published	Yes

All Science Journal Classification (ASJC) codes

Internal Medicine

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Yamakawa, N., Oe, K., Yukawa, N., Murakami, K., Nakashima, R., Imura, Y., Yoshifuji, H., Ohmura, K., Miura, Y., Tomosugi, N., Kawabata, H., Takaori-Kondo, A., & Mimori, T. (2016). A novel phenotype of a Hereditary hemochromatosis type 4 with ferroportin-1 mutation, presenting with juvenile cataracts. Internal Medicine, 55(18), 2697-2701. https://doi.org/10.2169/internalmedicine.55.6565

@article{e059262004224a45a1bc673703fb27ea,

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.",

keywords = "Ferroportin, Hereditary hemochromatosis type 4, Hereditary hyperferritinemia cataract syndrome, Juvenile cataracts",

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

note = "Publisher Copyright: {\textcopyright} 2016 The Japanese Society of Internal Medicine.",

year = "2016",

doi = "10.2169/internalmedicine.55.6565",

language = "English",

volume = "55",

pages = "2697--2701",

journal = "Internal Medicine",

issn = "0918-2918",

publisher = "Japanese Society of Internal Medicine",

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Yamakawa, N, Oe, K, Yukawa, N, Murakami, K, Nakashima, R, Imura, Y, Yoshifuji, H, Ohmura, K, Miura, Y, Tomosugi, N, Kawabata, H, Takaori-Kondo, A & Mimori, T 2016, 'A novel phenotype of a Hereditary hemochromatosis type 4 with ferroportin-1 mutation, presenting with juvenile cataracts', Internal Medicine, vol. 55, no. 18, pp. 2697-2701. https://doi.org/10.2169/internalmedicine.55.6565

TY - JOUR

T1 - A novel phenotype of a Hereditary hemochromatosis type 4 with ferroportin-1 mutation, presenting with juvenile cataracts

AU - Yamakawa, Noriyuki

AU - Oe, Kengo

AU - Yukawa, Naoichiro

AU - Murakami, Kosaku

AU - Nakashima, Ran

AU - Imura, Yoshitaka

AU - Yoshifuji, Hajime

AU - Ohmura, Koichiro

AU - Miura, Yasuo

AU - Tomosugi, Naohisa

AU - Kawabata, Hiroshi

AU - Takaori-Kondo, Akifumi

AU - Mimori, Tsuneyo

PY - 2016

Y1 - 2016

N2 - 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.

AB - 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.

KW - Ferroportin

KW - Hereditary hemochromatosis type 4

KW - Hereditary hyperferritinemia cataract syndrome

KW - Juvenile cataracts

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U2 - 10.2169/internalmedicine.55.6565

DO - 10.2169/internalmedicine.55.6565

M3 - Article

C2 - 27629970

AN - SCOPUS:84987849965

SN - 0918-2918

VL - 55

SP - 2697

EP - 2701

JO - Internal Medicine

JF - Internal Medicine

IS - 18

ER -

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

Abstract

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