메뉴 건너뛰기




Volumn 32, Issue 8, 2015, Pages 993-1000

Aceruloplasminemia presents as Type 1 diabetes in non-obese adults: A detailed case series

Author keywords

[No Author keywords available]

Indexed keywords

CERULOPLASMIN; DEFERASIROX; DEFERIPRONE; DEFEROXAMINE; FERRITIN; HEMOGLOBIN A1C; TRANSFERRIN;

EID: 84948715085     PISSN: 07423071     EISSN: 14645491     Source Type: Journal    
DOI: 10.1111/dme.12712     Document Type: Review
Times cited : (39)

References (50)
  • 1
    • 0037354313 scopus 로고    scopus 로고
    • Aceruloplasminemia, an inherited disorder of iron metabolism
    • Miyajima H, Takahashi Y, Kono S. Aceruloplasminemia, an inherited disorder of iron metabolism. Biometals 2003; 16: 205-213.
    • (2003) Biometals , vol.16 , pp. 205-213
    • Miyajima, H.1    Takahashi, Y.2    Kono, S.3
  • 2
    • 33745870402 scopus 로고    scopus 로고
    • Molecular and pathological basis of aceruloplasminemia
    • Kono S, Miyajima H. Molecular and pathological basis of aceruloplasminemia. Biol Res 2006; 39: 15-23.
    • (2006) Biol Res , vol.39 , pp. 15-23
    • Kono, S.1    Miyajima, H.2
  • 3
    • 48049107099 scopus 로고    scopus 로고
    • The neurological presentation of ceruloplasmin gene mutations
    • McNeill A, Pandolfo M, Kuhn J, Shang H, Miyajima H. The neurological presentation of ceruloplasmin gene mutations. Eur Neurol 2008; 60: 200-205.
    • (2008) Eur Neurol , vol.60 , pp. 200-205
    • McNeill, A.1    Pandolfo, M.2    Kuhn, J.3    Shang, H.4    Miyajima, H.5
  • 6
    • 84896495485 scopus 로고    scopus 로고
    • Never forget aceruloplasminemia in case of highly suggestive Wilson's disease score
    • Kerkhof M, Honkoop P. Never forget aceruloplasminemia in case of highly suggestive Wilson's disease score. Hepatology 2014; 59: 1645-1647.
    • (2014) Hepatology , vol.59 , pp. 1645-1647
    • Kerkhof, M.1    Honkoop, P.2
  • 7
    • 78649303120 scopus 로고    scopus 로고
    • Central nervous system involvement in a rare genetic iron overload disorder
    • Bethlehem C, van Harten B, Hoogendoorn M. Central nervous system involvement in a rare genetic iron overload disorder. Neth J Med 2010; 68: 316-318.
    • (2010) Neth J Med , vol.68 , pp. 316-318
    • Bethlehem, C.1    van Harten, B.2    Hoogendoorn, M.3
  • 8
    • 0037105376 scopus 로고    scopus 로고
    • Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations
    • Bosio S, De Gobbi M, Roetto A, Zecchina G, Leonardo E, Rizzetto M et al. Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations. Blood 2002; 100: 2246-2248.
    • (2002) Blood , vol.100 , pp. 2246-2248
    • Bosio, S.1    De Gobbi, M.2    Roetto, A.3    Zecchina, G.4    Leonardo, E.5    Rizzetto, M.6
  • 10
    • 0029618814 scopus 로고
    • A nonsense mutation of the ceruloplasmin gene in hereditary ceruloplasmin deficiency with diabetes mellitus
    • Daimon M, Kato T, Kawanami T, Tominaga M, Igarashi M, Yamatani K et al. A nonsense mutation of the ceruloplasmin gene in hereditary ceruloplasmin deficiency with diabetes mellitus. Biochem Biophys Res Commun 1995; 217: 89-95.
    • (1995) Biochem Biophys Res Commun , vol.217 , pp. 89-95
    • Daimon, M.1    Kato, T.2    Kawanami, T.3    Tominaga, M.4    Igarashi, M.5    Yamatani, K.6
  • 12
    • 20144377892 scopus 로고    scopus 로고
    • Macular degeneration in a patient with aceruloplasminemia, a disease associated with retinal iron overload
    • Dunaief JL, Richa C, Franks EP, Schultze RL, Aleman TS, Schenck JF et al. Macular degeneration in a patient with aceruloplasminemia, a disease associated with retinal iron overload. Ophthalmology 2005; 112: 1062-1065.
    • (2005) Ophthalmology , vol.112 , pp. 1062-1065
    • Dunaief, J.L.1    Richa, C.2    Franks, E.P.3    Schultze, R.L.4    Aleman, T.S.5    Schenck, J.F.6
  • 13
    • 78049463804 scopus 로고    scopus 로고
    • Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation
    • Finkenstedt A, Wolf E, Höfner E, Gasser BI, Bösch S, Bakry R et al. Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation. J Hepatol 2010; 53: 1101-1107.
    • (2010) J Hepatol , vol.53 , pp. 1101-1107
    • Finkenstedt, A.1    Wolf, E.2    Höfner, E.3    Gasser, B.I.4    Bösch, S.5    Bakry, R.6
  • 15
    • 0842265926 scopus 로고    scopus 로고
    • Clinical, molecular, and PET study of a case of aceruloplasminaemia presenting with focal cranial dyskinesia
    • Haemers I, Kono S, Goldman S, Gitlin JD, Pandolfo M. Clinical, molecular, and PET study of a case of aceruloplasminaemia presenting with focal cranial dyskinesia. J Neurol Neurosurg Psychiatry 2004; 75: 334-337.
    • (2004) J Neurol Neurosurg Psychiatry , vol.75 , pp. 334-337
    • Haemers, I.1    Kono, S.2    Goldman, S.3    Gitlin, J.D.4    Pandolfo, M.5
  • 16
    • 0041670918 scopus 로고    scopus 로고
    • Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene
    • Hatanaka Y, Okano T, Oda K, Yamamoto K, Yoshida K. Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene. Intern Med 2003; 42: 599-604.
    • (2003) Intern Med , vol.42 , pp. 599-604
    • Hatanaka, Y.1    Okano, T.2    Oda, K.3    Yamamoto, K.4    Yoshida, K.5
  • 18
    • 77958153346 scopus 로고    scopus 로고
    • Aceruloplasminemia in a Japanese woman with a novel mutation of CP gene: clinical presentations and analysis of genetic and molecular pathogenesis
    • Hida A, Kowa H, Iwata A, Tanaka M, Kwak S, Tsuji S. Aceruloplasminemia in a Japanese woman with a novel mutation of CP gene: clinical presentations and analysis of genetic and molecular pathogenesis. J Neurol Sci 2010; 298: 136-139.
    • (2010) J Neurol Sci , vol.298 , pp. 136-139
    • Hida, A.1    Kowa, H.2    Iwata, A.3    Tanaka, M.4    Kwak, S.5    Tsuji, S.6
  • 19
    • 34548119535 scopus 로고    scopus 로고
    • Identification and in silico characterization of a novel compound heterozygosity associated with hereditary aceruloplasminemia
    • Hofmann WP, Welsch C, Takahashi Y, Miyajima H, Mihm U, Krick C et al. Identification and in silico characterization of a novel compound heterozygosity associated with hereditary aceruloplasminemia. Scand J Gastroenterol 2007; 42: 1088-1094.
    • (2007) Scand J Gastroenterol , vol.42 , pp. 1088-1094
    • Hofmann, W.P.1    Welsch, C.2    Takahashi, Y.3    Miyajima, H.4    Mihm, U.5    Krick, C.6
  • 20
    • 0034081056 scopus 로고    scopus 로고
    • Aceruloplasminemia with a novel mutation associated with parkinsonism
    • Kohno S, Miyajima H, Takahashi Y, Inoue Y. Aceruloplasminemia with a novel mutation associated with parkinsonism. Neurogenetics 2000; 2: 237-238.
    • (2000) Neurogenetics , vol.2 , pp. 237-238
    • Kohno, S.1    Miyajima, H.2    Takahashi, Y.3    Inoue, Y.4
  • 21
    • 33745761771 scopus 로고    scopus 로고
    • Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia
    • Kono S, Suzuki H, Takahashi K, Takahashi Y, Shirakawa K, Murakawa Y et al. Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia. Gastroenterology 2006; 131: 240-245.
    • (2006) Gastroenterology , vol.131 , pp. 240-245
    • Kono, S.1    Suzuki, H.2    Takahashi, K.3    Takahashi, Y.4    Shirakawa, K.5    Murakawa, Y.6
  • 23
    • 0036623360 scopus 로고    scopus 로고
    • Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights
    • Loreal O, Turlin B, Pigeon C, Moisan A, Ropert M, Morice P et al. Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights. J Hepatol 2002; 36: 851-856.
    • (2002) J Hepatol , vol.36 , pp. 851-856
    • Loreal, O.1    Turlin, B.2    Pigeon, C.3    Moisan, A.4    Ropert, M.5    Morice, P.6
  • 24
    • 2342434172 scopus 로고    scopus 로고
    • Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation
    • Mariani R, Arosio C, Pelucchi S, Grisoli M, Piga A, Trombini P et al. Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation. Gut 2004; 53: 756-758.
    • (2004) Gut , vol.53 , pp. 756-758
    • Mariani, R.1    Arosio, C.2    Pelucchi, S.3    Grisoli, M.4    Piga, A.5    Trombini, P.6
  • 26
    • 0023240051 scopus 로고
    • Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration
    • Miyajima H, Nishimura Y, Mizoguchi K, Sakamoto M, Shimizu T, Honda N. Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration. Neurology 1987; 37: 761-767.
    • (1987) Neurology , vol.37 , pp. 761-767
    • Miyajima, H.1    Nishimura, Y.2    Mizoguchi, K.3    Sakamoto, M.4    Shimizu, T.5    Honda, N.6
  • 27
    • 23944490237 scopus 로고    scopus 로고
    • Frontal lobe dysfunction associated with glucose hypometabolism in aceruloplasminemia
    • Miyajima H, Takahashi Y, Kono S, Hishida A, Ishikawa K, Sakamoto M. Frontal lobe dysfunction associated with glucose hypometabolism in aceruloplasminemia. J Neurol 2005; 252: 996-997.
    • (2005) J Neurol , vol.252 , pp. 996-997
    • Miyajima, H.1    Takahashi, Y.2    Kono, S.3    Hishida, A.4    Ishikawa, K.5    Sakamoto, M.6
  • 28
    • 0029007765 scopus 로고
    • Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family
    • Morita H, Ikeda S, Yamamoto K, Morita S, Yoshida K, Nomoto S et al. Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family. Ann Neurol 1995; 37: 646-656.
    • (1995) Ann Neurol , vol.37 , pp. 646-656
    • Morita, H.1    Ikeda, S.2    Yamamoto, K.3    Morita, S.4    Yoshida, K.5    Nomoto, S.6
  • 29
    • 33748745745 scopus 로고    scopus 로고
    • Early onset insulin-dependent diabetes mellitus as an initial manifestation of aceruloplasminaemia
    • Muroi R, Yagyu H, Kobayashi H, Nagata M, Sato N, Ideno J et al. Early onset insulin-dependent diabetes mellitus as an initial manifestation of aceruloplasminaemia. Diabet Med 2006; 23: 1136-1139.
    • (2006) Diabet Med , vol.23 , pp. 1136-1139
    • Muroi, R.1    Yagyu, H.2    Kobayashi, H.3    Nagata, M.4    Sato, N.5    Ideno, J.6
  • 32
    • 84888228290 scopus 로고    scopus 로고
    • Teaching NeuroImages: neurodegeneration with brain iron accumulation in aceruloplasminemia
    • Parks NE, Vandorpe RA, Moeller JJ. Teaching NeuroImages: neurodegeneration with brain iron accumulation in aceruloplasminemia. Neurology 2013; 81: e151-e152.
    • (2013) Neurology , vol.81 , pp. e151-e152
    • Parks, N.E.1    Vandorpe, R.A.2    Moeller, J.J.3
  • 33
    • 18844362627 scopus 로고    scopus 로고
    • Aceruloplasminemia in an asymptomatic patient with a new mutation. Diagnosis and family genetic analysis
    • Pérez-Aguilar F, Burguera JA, Benlloch S, Berenguer M, Rayón JM. Aceruloplasminemia in an asymptomatic patient with a new mutation. Diagnosis and family genetic analysis. J Hepatol 2005; 42: 947-949.
    • (2005) J Hepatol , vol.42 , pp. 947-949
    • Pérez-Aguilar, F.1    Burguera, J.A.2    Benlloch, S.3    Berenguer, M.4    Rayón, J.M.5
  • 35
    • 84892979039 scopus 로고    scopus 로고
    • Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms
    • Rusticeanu M, Zimmer V, Schleithoff L, Wonney K, Viera J, Zimmer A et al. Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms. Clin Genet 2014; 85: 300-301.
    • (2014) Clin Genet , vol.85 , pp. 300-301
    • Rusticeanu, M.1    Zimmer, V.2    Schleithoff, L.3    Wonney, K.4    Viera, J.5    Zimmer, A.6
  • 36
    • 33846428055 scopus 로고    scopus 로고
    • Novel mutation in the ceruloplasmin gene causing a cognitive and movement disorder with diabetes mellitus
    • Shang HF, Jiang XF, Burgunder JM, Chen Q, Zhou D. Novel mutation in the ceruloplasmin gene causing a cognitive and movement disorder with diabetes mellitus. Mov Disord 2006; 21: 2217-2220.
    • (2006) Mov Disord , vol.21 , pp. 2217-2220
    • Shang, H.F.1    Jiang, X.F.2    Burgunder, J.M.3    Chen, Q.4    Zhou, D.5
  • 38
    • 84879628275 scopus 로고    scopus 로고
    • Effectiveness of oral iron chelator treatment with deferasirox in an aceruloplasminemia patient with a novel ceruloplasmin gene mutation
    • Suzuki Y, Yoshida K, Aburakawa Y, Kuroda K, Kimura T, Terada T et al. Effectiveness of oral iron chelator treatment with deferasirox in an aceruloplasminemia patient with a novel ceruloplasmin gene mutation. Intern Med 2013; 52: 1527-1530.
    • (2013) Intern Med , vol.52 , pp. 1527-1530
    • Suzuki, Y.1    Yoshida, K.2    Aburakawa, Y.3    Kuroda, K.4    Kimura, T.5    Terada, T.6
  • 39
    • 84914142421 scopus 로고    scopus 로고
    • Case of presymptomatic aceruloplasminemia treated with deferasirox
    • Tai M, Matsuhashi N, Ichii O, Suzuki T, Ejiri Y, Kono S et al. Case of presymptomatic aceruloplasminemia treated with deferasirox. Hepatol Res 2014; 44: 1253-1258.
    • (2014) Hepatol Res , vol.44 , pp. 1253-1258
    • Tai, M.1    Matsuhashi, N.2    Ichii, O.3    Suzuki, T.4    Ejiri, Y.5    Kono, S.6
  • 40
    • 0030027565 scopus 로고    scopus 로고
    • Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease
    • Takahashi Y, Miyajima H, Shirabe S, Nagataki S, Suenaga A, Gitlin JD. Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease. Hum Mol Genet 1996; 5: 81-84.
    • (1996) Hum Mol Genet , vol.5 , pp. 81-84
    • Takahashi, Y.1    Miyajima, H.2    Shirabe, S.3    Nagataki, S.4    Suenaga, A.5    Gitlin, J.D.6
  • 42
    • 77956211619 scopus 로고    scopus 로고
    • Central diabetes insipidus and hypothalamic hypothyroidism associated with aceruloplasminemia
    • Watanabe M, Asai C, Ishikawa K, Kiyota A, Terada T, Kono S et al. Central diabetes insipidus and hypothalamic hypothyroidism associated with aceruloplasminemia. Intern Med 2010; 49: 1581-1585.
    • (2010) Intern Med , vol.49 , pp. 1581-1585
    • Watanabe, M.1    Asai, C.2    Ishikawa, K.3    Kiyota, A.4    Terada, T.5    Kono, S.6
  • 43
    • 0032539831 scopus 로고    scopus 로고
    • A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis
    • Yazaki M, Yoshida K, Nakamura A, Furihata K, Yonekawa M, Okabe T et al. A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis. J Neurol Sci 1998; 156: 30-34.
    • (1998) J Neurol Sci , vol.156 , pp. 30-34
    • Yazaki, M.1    Yoshida, K.2    Nakamura, A.3    Furihata, K.4    Yonekawa, M.5    Okabe, T.6
  • 45
    • 0033546624 scopus 로고    scopus 로고
    • Estimation of the gene frequency of aceruloplasminemia in Japan
    • Miyajima H, Kohno S, Takahashi Y, Yonekawa O, Kanno T. Estimation of the gene frequency of aceruloplasminemia in Japan. Neurology 1999; 53: 617-619.
    • (1999) Neurology , vol.53 , pp. 617-619
    • Miyajima, H.1    Kohno, S.2    Takahashi, Y.3    Yonekawa, O.4    Kanno, T.5
  • 46
    • 84892659350 scopus 로고    scopus 로고
    • Diagnosis and classification of diabetes mellitus
    • American Diabetes Association. Diagnosis and classification of diabetes mellitus. Diabetes Care 2014; 37 S81-S90.
    • (2014) Diabetes Care , vol.37 , pp. S81-S90
  • 47
    • 84901399161 scopus 로고    scopus 로고
    • Need for reclassification of diabetes secondary to iron overload in the ADA and WHO classifications
    • Ellervik C, Birgens H, Mandrup-Poulsen T. Need for reclassification of diabetes secondary to iron overload in the ADA and WHO classifications. Diabetes Care 2014; 37: e137-e138.
    • (2014) Diabetes Care , vol.37 , pp. e137-e138
    • Ellervik, C.1    Birgens, H.2    Mandrup-Poulsen, T.3
  • 48
    • 0036800145 scopus 로고    scopus 로고
    • The copper-iron connection: hereditary aceruloplasminemia
    • Nittis T, Gitlin JD. The copper-iron connection: hereditary aceruloplasminemia. Semin Hematol 2002; 39: 282-289.
    • (2002) Semin Hematol , vol.39 , pp. 282-289
    • Nittis, T.1    Gitlin, J.D.2
  • 49
    • 33646382404 scopus 로고    scopus 로고
    • Evaluation of a diagnostic algorithm for hereditary hemochromatosis in 3,500 patients with diabetes
    • Hahn JU, Steiner M, Bochnig S, Schmidt H, Schuff-Werner P, Kerner W. Evaluation of a diagnostic algorithm for hereditary hemochromatosis in 3, 500 patients with diabetes. Diabetes Care 2006; 29: 464-466.
    • (2006) Diabetes Care , vol.29 , pp. 464-466
    • Hahn, J.U.1    Steiner, M.2    Bochnig, S.3    Schmidt, H.4    Schuff-Werner, P.5    Kerner, W.6
  • 50
    • 0035960427 scopus 로고    scopus 로고
    • Prevalence of hereditary haemochromatosis in late-onset type 1 diabetes mellitus: a retrospective study
    • Ellervik C, Mandrup-Poulsen T, Nordestgaard BG, Larsen LE, Appleyard M, Frandsen M et al. Prevalence of hereditary haemochromatosis in late-onset type 1 diabetes mellitus: a retrospective study. Lancet 2001; 358: 1405-1409.
    • (2001) Lancet , vol.358 , pp. 1405-1409
    • Ellervik, C.1    Mandrup-Poulsen, T.2    Nordestgaard, B.G.3    Larsen, L.E.4    Appleyard, M.5    Frandsen, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.