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年度 総括・分担研究報告書

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年度 総括・分担研究報告書（page 44/118）[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年度 総括・分担研究報告書]

電子ブックを開く

このページは、電子ブック 「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年度 総括・分担研究報告書」 内の 44ページ の概要です。
秒後に電子ブックの対象ページへ移動します。
「電子ブックを開く」をクリックすると、今すぐ対象ページへ移動します。

概要：
Inherited Cu Disorders Current Drug Metabolism, 2012, Vol. 13, No. 3 249[53] Bahi-Buisson, N.; Kaminska, A.; Nabbout, R.; Barnerias, C.; Desguerre,I.; De Lonlay, P.; Mayer, M.; Plouin, P.; Dulac, O.; ....

Inherited Cu Disorders Current Drug Metabolism, 2012, Vol. 13, No. 3 249[53] Bahi-Buisson, N.; Kaminska, A.; Nabbout, R.; Barnerias, C.; Desguerre,I.; De Lonlay, P.; Mayer, M.; Plouin, P.; Dulac, O.; ChironC. Epilepsy in Menkes disease: analysis of clinical stages. Epilepsia,2006; 47(2), 380-386.[54] Ozawa, H.; Otaki, U.; Gu, Y.H.; Kodama, H. The symptoms andtreatment of 20 patients with Menkes disease in Japan (in Japanese).J. Jpn. Pediatr. Soc., 2009; 113(8), 1234-1237.[55] Ito, H.; Mori, K.; Sakata, M.; Naito, E.; Harada, M.; Minato, M.;Kodama, H.; Gu, Y.H.; Kuroda, Y.; Kagami, S. Pathophysiology ofthe transient temporal lobe lesion in a patient with Menkes disease.Pediatr. Int., 2008, 50(6), 825-827.[56] Ozawa, H.; Kodama, H.; Murata, Y.; Takashima, S.; Noma, S.Transient temporal lobe changes and a novel mutation in a patientwith Menkes disease. Pediatr. Int., 2001, 43(4), 437-440.[57] Ozawa, H.; Kodama, H.; Kawaguchi, H.; Mochizuki, T.; Kobayashi,M.; Igarashi, T. Renal function in patients with Menkes disease.Eur. J. Pediatr., 2003, 162(1), 51-52.[58] Donsante, A.; Tang, J.; Godwin, S.C.; Holmes, C.S.; Goldstein,D.S.; Bassuk, A.; Kaler, S.G. Differences in ATP7A gene expressionunderlie intrafamilial variability in Menkes disease/occipitalhorn syndrome. J. Med. Genet., 2007, 44(8), 492-497.[59] Matsuo, M.; Tasaki, R.; Kodama, H.; Hamasaki, Y. Screening forMenkes disease using the urine HVA/VMA ratio. J. Inherit. Metab.Dis., 2005, 28(1), 89-93.[60] Kaler, S.G.; Holmes, C.S.; Goldstein, D.S.; Tang, J.; Godwin, S.C.;Donsante, A.; Liew, C.J.; Sato, S.; Patronas, N. Neonatal diagnosisand treatment of Menkes disease. N. Engl. J. Med., 2008, 358(6),605-614.[61] Sarkar, B. Treatment of Wilson and Menkes disease. Chem. Rev.,1999, 99(9), 2535-2544.[62] Sarkar, B.; Lingertat-Walsh, K.; Clarke, J.T. Copper-histidinetherapy for Menkes disease. J. Pediatr., 1993, 123(5), 828-830.[63] Christodoulou, J.; Danks, D.M.; Sarkar, B.; Baerlocher, K.E.; Casey,R.; Horn, N.; Tumer, Z.; Clarke, J.T. Early treatment ofMenkes disease with parenteral copper-histidine: long-term followupof four treated patients. Am. J. Med. Genet., 1998, 76(2), 154-164.[64] Kaler, S.G.; Tang, J.; Kaneski, C.R. Translation read-through of anonsense mutation in ATP7A impacts treatment outcome in Menkesdisease. Ann. Neurol., 2009, 65(1), 108-113.[65] Kaler, S.G.; Liew, C.J.; Donsante, A.; Hicks, J.D.; Sato, S.;Greenfield, J.C. Molecular correlates of epilepsy in early diagnosedand treated Menkes disease. J. Inherit. Metab. Dis., 2010, 33(5),583-589.[66] Kodama, H.; Sato, E.; Gu, Y.H.; Shiga, K.; Fujisawa, C.; Kozuma,T. Effect of copper and diethyldithiocarbamate combination therapyon the macular mouse, an animal model of Menkes disease. J.Inherit. Metab. Dis., 2005, 28(6), 971-978.[67] Takeda, T.; Fujioka, H.; Nomura, S.; Ninomiya, E.; Fujisawa, C.;Kodama, H.; Shintaku, H. The effect of disulfiram with Menkesdisease ? a case report. J. Inherit. Metab. Dis., 2010, 33, S161.[68] Mak, C.M. and Lam, C.W. Diagnosis of Wilson's disease: a comprehensivereview. Crit. Rev. Clin. Lab. Sci., 2008, 45(3), 263-290.[69] Gu, Y.H.; Kodama, H.; Du, S.L.; Gu, Q.J.; Sun, H.J.; Ushijima, H.Mutation spectrum and polymorphisms in ATP7B identified on directsequencing of all exons in Chinese Han and Hui ethnic patientswith Wilson's disease. Clin. Genet., 2003, 64(6), 479-484.[70] Panagiotakaki, E.; Tzetis, M.; Manolaki, N.; Loudianos, G.; Papatheodorou,A.; Manesis, E.; Nousia-Arvanitakis, S.; Syriopoulou,V.; Kanavakis, E. Genotype-phenotype correlations for a widespectrum of mutations in the Wilson disease gene (ATP7B). Am. J.Med. Genet. A., 2004, 131(2), 168-173.[71] Gromadzka, G.; Schmidt, H.H.; Genschel, J.; Bochow, B.; Rodo,M.; Tarnacka, B.; Litwin, T.; Chabik, G.; Czlonkowska, A.Frameshift and nonsense mutations in the gene for ATPase7B areassociated with severe impairment of copper metabolism and withan early clinical manifestation of Wilson's disease. Clin. Genet.,2005, 68(6), 524-532.[72] Barada, K.; El-Atrache, M.; El-Haji, I.I; Rida, K.; El-Hajjar, J.;Mahfoud, Z.; Usta, J. Homozygous mutations in the conservedATP hinge region of the Wilson disease gene association with liverdisease. J. Clin. Gastroenterol., 2010, 44(6), 432-439.[73] Weiss, K.H.; Runz, H.; Noe, B.; Gotthardt, D.N.; Merle, U.; Ferenci,P.; Stremmel, W.; Fullekrug, J. Genetic analysis ofBIRC4/XIAP as a putative modifier gene of Wilson disease. J.Inherit. Metab. Dis., 2010. [Epub Ahead][74] Gupta, A.; Chattopadhyay, I.; Mukherjee, S.; Sengupta, M.; Das,S.K.; Ray, K. A novel COMMD1 mutation Thr174Met associatedwith elevated urinary copper and signs of enhanced apoptotic celldeath in a Wilson disease patient. Behav. Brain Funct., 2010, 6(33),1-5.[75] Wu, J.; Forbes, J.R.; Chen, H.S.; Cox, D.W. The LEC rat has adeletion in the copper transporting ATPase gene homologous to theWilson disease gene. Nat. Genet., 1994, 7(4), 541-545.[76] Masuda, R.; Yoshida, M.C.; Sasaki, M.; Dempo, K.; Mori, M. Highsusceptibility to hepatocellular carcinoma development in LEC ratswith hereditary hepatitis. Jpn. J. Cancer Res., 1988, 79(7), 828-835.[77] Coronado, V.; Nanji, M.; Cox, D.W. The Jackson toxic milk mouseas a model for copper loading. Mamm. Genome, 2001, 12(10), 793-795.[78] Shim, H. and Harris, Z.L. Genetic defects in copper metabolism. J.Nutr., 2003, 133(5 Suppl 1), 1527S-1531S.[79] Hayashi, H.; Yano, M.; Fujita, Y.; Wakusawa, S. Compound overloadof copper and iron in patients with Wilson’s disease. Med.Mol. Morphol., 2006, 39(3), 121-126.[80] Merle, U.; Tuma, S.; Herrmann, T.; Muntean, V.; Volkmann, M.;Gehrke, S.G.; Stremmel, W. Evidence for a critical role of ceruloplasminoxidase activity in iron metabolism of Wilson diseasegene knockout mice. J. Gastroenterol. Hepatol., 2010, 25(6), 1144-1150.[81] Lorincz, M.T. Neurologic Wilson’s disease. Ann. N. Y. Acad. Sci.,2010, 1184, 173-187.[82] Prashanth, L.K.; Sinha, S.; Taly, A.B.; Mahadevan, A.; Vasudev,M.K.; Shankar, S.K. Spectrum of epilepsy in Wilson’s disease withelectroencephalographic, MR imaging and pathological correlates.J. Neurol. Sci., 2010, 291(1-2), 44-51.[83] Kodama, H.; Okabe, I.; Yanagisawa, M.; Nomiyama, H.; Nomiyama,K.; Nose, O.; Kamoshita, S. Does CSF copper level in Wilsondisease reflect copper accumulation in the brain? Pediatr. Neurol.,1988, 4(1), 35-37.[84] Kumagi, T.; Horiike, N.; Michitaka, K.; Hasebe, A.; Kawai, K.;Tokumoto, Y.; Nakanishi, S.; Furukawa, S.; Hiasa, Y.; Matsui, H.;Kurose, K.; Matsuura, B.; Onji M. Recent clinical features of Wilson’sdisease with hepatic presentation. J. Gastroenterol., 2004,39(12), 1165-1169.[85] Sinha, S.; Taly, A.B.; Prashanth, L.K.; Ravishankar, S.;Arunodaya, G.R.; Vasudev, M.K. Sequential MRI changes in Wilson’sdisease with de-copper therapy: a study of 50 patients. Br. J.Radiol., 2007, 80, 744-749.[86] Sinha, S.; Taly, A.B.; Ravishankar, S. Wilson’s disease: 31 P and 1 HMR spectroscopy and clinical correlation. Neuroradiology. 2010,DOI 10.1007/s00243-010-0661-1.[87] Zhuang, X.H.; Mo, Y.; Jiang, X.Y.; Chen, S.M. Analysis of renalimpairment in children with Wilson's disease. World J. Pediatr.,2008, 4(2), 102-105.[88] Das, S.K. and Ray, K. Wilson's disease: an update. Nat. Clin.Pract. Neurol., 2006, 2(9), 482-493.[89] Roberts, E.A. and Schilsky, M.L. Diagnosis and treatment of Wilsondisease: an update. Hepatology, 2008, 47(6), 2089-2111.[90] Oder, W.; Grimm, G.; Kollegger, H.; Ferenci, P.; Schneider, B.;Deecke, L. Neurological and neuropsychiatric spectrum of Wilson'sdisease: a prospective study of 45 cases. J. Neurol., 1991, 238(5),281-287.[91] Foruny, J.R.; Boixeda, D.; Lopez-Sanroman, A.; Vazquez-Sequeiros, E.; Villafruela, M.; Vazquez-Romero, M.; Rodriguez-Gandia, M.; de Argila, C.M.; Camarero, C.; Milicua, J.M. Usefulnessof penicillamine-stimulated urinary copper excretion in the diagnosisof adult Wilson's disease. Scand. J. Gastroenterol., 2008,43(5), 597-603.[92] Lin, C.W.; Er, T.K.; Tsai, F.J., Lie, T.C.; Shin, P.Y.; Chang, J.G.Development of a high-resolution melting method for the screeningof Wilson disease-related ATP7B gene mutations. Clin. Chim.Acta, 2010, 411(17-18), 1223-1231.[93] Ferenci, P.; Caca, K.; Loudianos, G.; Mieli-Vergani, G.; Tanner,S.; Sternlieb, I.; Schilsky, M.; Cox, D.; Berr, F. Diagnosis and phenotypicclassification of Wilson disease. Liver Int., 2003, 23(3),139-142.[94] Dhanwan, A. Evaluation of the scoring system for the diagnosis ofWilson’s disease in children. Liver Int., 2005, 25(3), 680-681.