タイトル厚生労働科学研究費補助金(難治性疾患克服研究事業)「Menkes 病・occipital horn 症候群の実態調査、早期診断基準確立、治療法開発に関する研究」平成23-24年度 総合研究報告書
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- 厚生労働科学研究費補助金(難治性疾患克服研究事業)「Menkes 病・occipital horn 症候群の実態調査、早期診断基準確立、治療法開発に関する研究」平成23-24年度 総合研究報告書
76ページ中、41ページ目の概要を表示しています。
76ページ中、41ページ目の概要を表示しています。
厚生労働科学研究費補助金(難治性疾患克服研究事業)「Menkes 病・occipital horn 症候群の実態調査、早期診断基準確立、治療法開発に関する研究」平成23-24年度 総合研究報告書
250 Current Drug Metabolism, 2012, Vol. 13, No. 3 Kodama et al.[95] Prashanth, L.K.; Taly, A.B.; Sinha, S.; Arunodaya, G.R.; Swamy,H.S. Wilson's disease: diagnostic errors and clinical implications. J.Neurol. Neurosurg. Psychiatry., 2004, 75(6), 907-909.[96] Owada, M.; Suzuki, K.; Fukushi, M.; Yamauchi, K.; Kitagawa, T.Mass screening for Wilson's disease by measuring urinary holoceruloplasmin.J. Pediatr., 2002, 140(5), 614-616.[97] Yamaguchi, Y.; Aoki, T.; Arashima, S.; Ooura, T.; Takada, G.;Kitagawa, T.; Shigematsu, Y.; Shimada, M.; Kobayashi, M.; Itou,M.; Endo, F. Mass screening for Wilson's disease: results and recommendations.Pediatr. Int., 1999, 41(4), 405-408.[98] Nakayama, K.; Kubota, M.; Katoh, Y.; Sawada, Y.; Saito, A.;Nishimura, K.; Katsura, E.; Ichihara, N.; Suzuki, T.; Kouguchi, H.;Tamura, M.; Honma, H.; Kanzaki, S.; Itami, H.; Ohtake, A.; Kobayashi,K.; Ariga, T.; Fujieda, K.; Shimizu, N.; Aoki, T. Early andpresymptomatic detection of Wilson's disease at the mandatory 3-year-old medical health care examination in Hokkaido Prefecturewith the use of a novel automated urinary ceruloplasmin assay.Mol. Genet. Metab., 2008, 94(3), 363-367.[99] Brewer, G.J. and Askari, F.K. Wilson’s disease: clinical managementand therapy. J. Hepatol., 2005, 42 (Suppl 1), S13-S21.[100] Walshe, J.M. Monitoring copper in Wilson’s disease. Adv. Clin.Chem., 2010, 50, 151-163.[101] Hill, V.A.; Seymour, C.A.; Mortimer, P.S. Penicillamine-inducedelastosis perforans serpiginosa and cutis laxa in Wilson's disease,Br. J. Dermatol., 2000, 142(3), 560?561.[102] Kodama, H.; Murata, Y.; Iitsyka, T.; Abe, T. Metabolism of administeredtriethylene tetramine dihydrochloride in humans. Life Sci.,1997, 61(9), 899-907.[103] Taylor, R.M.; Chen, Y.; Dhawan, A. Triethylene tetramine dihydrochloride(trientine) in children with Wilson disease: experienceat King’s Collage Hospital and review of the literature. Eur. J. Pediatr.,2009, DOI 10.1007/s00431-008-0886-8.[104] Brewer, G.J.; Hill, G.M.; Prasad, A.S.; Cossack, Z.T.; Rabbani, P.Oral zinc therapy for Wilson’s disease. Ann. Intern. Med., 1983,99(3), 314-319.[105] Hoogenraad, T.U. Paradigm shift in treatment of Wilson’s disease:Zinc therapy now treatment of choice. Brain Dev., 2006, 28(3),141-146.[106] Shimizu, N.; Fujiwara, J.; Ohnishi, S.; Sato, M.; Kodama, H.; Kohsaka,T.; Inui, A.; Fujisawa, T.; Tamai, H.; Ida, S.; Itoh, S.; Ito, M.;Horiike, N.; Harada, M.; Yoshino, M.; Aoki, T. Effects of longtermzinc treatment in Japanese patients with Wilson disease: efficacy,stability, and copper metabolism. Transl. Res., 2010, 156(6),350-357.[107] Brewer, G.J.; Askari, F.; Dick, R.B.; Sitterly, J.; Fink, J.K.; Carlson,M.; Kluin, K.J.; Lorincz, M.T. Treatment of Wilson’s diseasewith tetrathiomolybdate: V. control of free copper by tetrathiomolybdateand a comparison with trientine. Transl. Res., 2009, 154(2),70-77.[108] Brewer, G.J.; Askari, F.; Lorincz, M.T.; Carlson, M.; Schilsky, M.;Kluin, K.J.; Hedera, P.; Moretti, P.; Fink, J.K.; Tanlanow, R.; Dick,R.B.; Sitterly, J. Treatment of Wilson disease with ammoniumtetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientinein a double-blind study of treatment of the neurologic presentationof Wilson disease. Arch. Neurol., 2006, 63(4), 521-527.[109] Pestana Knight, E.M.; Gilman, S.; Selwa, L. Status epilepticus inWilson’s disease. Epileptic Disord., 2009, 11(2), 138-143.[110] Brewer, G.J. Neurologically presenting Wilson's disease: epidemiology,pathophysiology and treatment. CNS Drugs, 2005, 19(3),185-192.[111] Wiggelinkhuizen, M.; Tilanus, M.E.C.; Bollen, C.W.; Houwen,R.H.J. Systematic review: clinical efficacy of chelator agents andzinc in the initial treatment of Wilson disease. Aliment. Pharmacol.Ther., 2009, 29(9), 947-958.[112] Linn, F. H.H.; Houwen, R.H.J.; van Hattum, J.; van der Kleij, S.;van Erpecum, K.J. Long-term exclusive zinc monotherapy insymptomatic Wilson disease: Experience in 17 patients. Hepatol.,2009, 50(5), 1442-1452.[113] Duarte-Rojo, A.; Zepeda-Gomez, S.; Garcia-Leiva, J.; Remes-Troche, J.M.; Angeles-Angeles, A.; Torre-Delgadillo, A.; Olivera-Martinez, M.A. Liver transplantation for neurologic Wilson’s disease:reflections on two cases within a Mexican cohort. Rev. Gastroenterol.Mex., 2009, 74(3), 218-223.[114] Komatsu, H.; Fujisawa, T.; Inui, A.; Sogo, T.; Sekine, I.; Kodama,H.; Uemoto, S.; Tanaka, K. Hepatic copper concentration in childrenundergoing living related liver transplantation due to Wilsonianfulminant hepatic failure. Clin. Transplant., 2002, 16(3),227-232.[115] Mase?bas, W.; Chabik, G.; Cz?onkowska, A. Persistence with treatmentin patients with Wilson disease. Neurol. Neurochir. Pol.,2010, 44(3), 260-263.[116] Tsubota, A.; Matsumoto, K.; Mogushi, K.; Nariai, K.; Namiki, Y.;Hoshina, S.; Hano, H.; Tanaka, H.; Saito, H.; Tada, N. IQGAP1and vimentin are key regulator genes in naturally occurring hepatotumorigenesisinduced by oxidative stress. Carcinogenesis, 2010,31(3), 504-511.[117] Staib, F.; Hussain, S.P.; Hofseth, L.J.; Wang, X.W.; Harris, C.C.TP53 and liver carcinogenesis. Hum. Mutat., 2003, 21(3), 201-216.[118] Fryer, M.J. Potential of vitamin E as an antioxidant adjunct inWilson’s disease. Med. Hypotheses, 2009, 73(6), 1029-1030.[119] Brewer, G.J. Copper control as an antiangiogenic anticancer therapy:Lessons from treating Wilson’s disease. Exp. Biol. Med.,2001, 226(7), 665-673.[120] Brewer, G.J. Tetrathiomolybdate anticopper therapy for Wilson'sdisease inhibits angiogenesis, fibrosis and inflammation. J. CellMol. Med., 2003, 7(1), 11-20.[121] Tumer, Z. and Moller, L.B. Menkes disease. Eur. J. Hum. Genet.,2010, 18(5), 511-518.[122] Meskini, R.E.; Culotta, V.C.; Mains, R.E.; Eipper, B.A. Supplyingcopper to the cuproenzymes peptidylglycine ??amidatingmonooxygenase. J. Biol. Chem., 2003, 278(14), 12278-12284.[123] Chen, H.; Huang, G.; Su, T.; Gao, H.; Attieh, Z.K.; McKie, A.T.;Anderson, G.J.; Vulpe, C.D. Decrease hephaestin activity in the intestineof copper-deficient mice causes systemic iron deficiency. J.Nutr., 2006, 136(5), 1236-1241.[124] Riordan, J.F. 14-Structure and function of angiogenin. Ribonuclease,1997, 445-489.[125] Ganz, T. Angiogenin: an antimicrobial ribonuclease. Nat. Immunol.,2003, 4(3), 213-214.[126] Hooper, L.V.; Stappenbeck, T.S.; Hong, C.V.; Gordon, J.I. Angiogenins:a new class of microbicidal proteins involved in innate immunity.Nat. Immunol., 2003, 4(3), 269-273.[127] Toninello, A.; Pietrangeli, P.; Marchi, U.D.; Salvi, M.; Mondovi,B. Amine oxidases in apoptosis and cancer. Biochim. Biophys.Acta., 2006, 1765(1), 1-13.[128] Ogiwara, K.; Nogami, K.; Nishiya, K.; Shima, M. Plasmin-inducedprocoagulant effects in the blood coagulation: a crutial role of coagulationfactor V and VIII. Blood Coagul. Fibrinolysis, 2010,21(6), 568-576.[129] George, G.N.; Pickering, I.J.; Harris, H.H.; Gailer, J.; Klein, D.;Lichtmannegger, J.; Summer, K.K. Tetrathiomolybdate causesformation of hepatic copper-molybdenum clusters in an animalmodel of Wilson’s disease. J. Am. Chem. Soc., 2003, 125(7), 1704-1705.[130] Brewer, G.J.; Terry, C.A.; Aisen, A.M.; Hill, G.M.Worsening ofneurological syndrome in patients with Wilson’s disease with initialpenicillamine therapy. Arch. Neurol., 1987, 44(5), 490-493.Received: December 22, 2010 Revised: March 7, 2011 Accepted: May 16, 201139