剖検により診断された高齢発症の赤芽球性プロトポルフィリン症の1例
症例は71歳，男性．近医で日光過敏症と診断後，肝障害を伴い，抗核抗体陽性，IgG高値と肝生検により自己免疫性肝炎と診断された．プレドニゾロン（prednisolone：PSL）療法が無効で，免疫抑制剤であるアザチオプリン（azathioprine：AZA），シクロスポリン（cyclosporine：CYA）を併用したが，効果を認めず，第93病日に肝不全で死亡した．病理解剖を実施し，肝組織内にプロトポルフィリン沈着を認め，赤芽球性プロトポルフィリン症（Erythropoietic protoporphyria：EPP）と診断した．生前時は自己免疫性肝炎と診断されたが，剖検により高齢発症のEPPと...
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| Published in | 肝臓 Vol. 64; no. 5; pp. 235 - 242 |
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| Main Authors | , , , , , , , , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
一般社団法人 日本肝臓学会
01.05.2023
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0451-4203 1881-3593 |
| DOI | 10.2957/kanzo.64.235 |
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| Abstract | 症例は71歳，男性．近医で日光過敏症と診断後，肝障害を伴い，抗核抗体陽性，IgG高値と肝生検により自己免疫性肝炎と診断された．プレドニゾロン（prednisolone：PSL）療法が無効で，免疫抑制剤であるアザチオプリン（azathioprine：AZA），シクロスポリン（cyclosporine：CYA）を併用したが，効果を認めず，第93病日に肝不全で死亡した．病理解剖を実施し，肝組織内にプロトポルフィリン沈着を認め，赤芽球性プロトポルフィリン症（Erythropoietic protoporphyria：EPP）と診断した．生前時は自己免疫性肝炎と診断されたが，剖検により高齢発症のEPPと診断された肝不全の1例を経験したので報告する． |
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| AbstractList | 症例は71歳，男性．近医で日光過敏症と診断後，肝障害を伴い，抗核抗体陽性，IgG高値と肝生検により自己免疫性肝炎と診断された．プレドニゾロン（prednisolone：PSL）療法が無効で，免疫抑制剤であるアザチオプリン（azathioprine：AZA），シクロスポリン（cyclosporine：CYA）を併用したが，効果を認めず，第93病日に肝不全で死亡した．病理解剖を実施し，肝組織内にプロトポルフィリン沈着を認め，赤芽球性プロトポルフィリン症（Erythropoietic protoporphyria：EPP）と診断した．生前時は自己免疫性肝炎と診断されたが，剖検により高齢発症のEPPと診断された肝不全の1例を経験したので報告する． |
| Author | 森田, 祐輔 矢田, 雅佳 成富, 文哉 田中, 紘介 髙井, 咲弥 長澤, 滋裕 桒野, 哲史 増本, 陽秀 黒坂, 一輝 平木, 由佳 本村, 健太 大石, 善丈 |
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| References | 12) McGuire BM, Bonkovsky HL, Carithers RL Jr, et al. Liver transplantation for erythropoietic protoporphyria liver disease. Liver Transpl 2005; 11: 1590-1596 21) Noyman Y, Edel Y, Snast I, et al. Inherited genetic late-onset erythropoietic protoporphyria: A systematic review of the literature. Photodermatol Photoimmunol Photomed 2021; 37: 374-379 9) Casanova-González MJ, Trapero-Marugán M, Jones EA, et al. Liver disease and erythropoietic protoporphyria: a concise review. World J Gastroenterol 2010; 16: 4526-4531 15) Went LN, Klasen EC. Genetic aspects of erythropoietic protoporphyria. Ann Hum Genet 1984; 48: 105-117 6) Anstey AV, Hift RJ. Liver disease in erythropoietic protoporphyria: insights and implications for management. Gut 2007; 56: 1009-1018 24) Lecha M, Puy H, Deybach JC. Erythropoietic protoporphyria. Orphanet J Rare Dis 2009; 4: 19 25) Komatsu H, Ishii K, Imamura K, et al. A case of erythropoietic protoporphyria with liver cirrhosis suggesting a therapeutic value of supplementation with alpha-tocopherol. Hepatol Res 2000; 18: 298-309 23) Coffey A, Leung DH, Quintanilla NM. Erythropoietic Protoporphyria: Initial Diagnosis With Cholestatic Liver Disease. Pediatrics 2018; 141 (Suppl 5): S445-S450 4) Wahlin S, Floderus Y, Ros AM, et al. The difficult clinical diagnosis of erythropoietic protoporphyria. Physiol Res 2006; 55 (Suppl 2): S155-157 7) Alvarez F, Berg PA, Bianchi FB, et al. International Autoimmune Hepatitis Group Report: review of criteria for diagnosis of autoimmune hepatitis. J Hepatol 1999; 31: 929-938 17) Gouya L, Deybach JC, Lamoril J, et al. Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele. Am J Hum Genet 1996; 58: 292-299 22) Zhao C, Guan JX, Hui DY, et al. Liver involvement in patients with erythropoietic protoporphyria: retrospective analysis of clinicopathological features of 5 cases. Ann Diagn Pathol 2022; 56: 151859 5) Singal AK, Parker C, Bowden C, et al. Liver transplantation in the management of porphyria. Hepatology 2014; 60: 1082-1089 20) Berroeta L, Man I, Goudie DR, et al. Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members. Br J Dermatol 2007; 157: 1030-1031 11) Holme SA, Worwood M, Anstey AV, et al. Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria. Blood 2007; 110: 4108-4110 16) Gouya L, Puy H, Robreau AM, et al. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. Nat Genet 2002; 30: 27-28 13) 穴井盛靖, 宮瀬志保, 石貫敬子, 他. 重篤な肝障害を来した骨髄性プロトポルフィリン症の1例. 肝臓 2016; 57: 227-232 18) Gouya L, Puy H, Lamoril J, et al. Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation. Blood 1999; 93: 2105-2110 19) Nakano H, Nakano A, Toyomaki Y, et al. Novel ferrochelatase mutations in Japanese patients with erythropoietic protoporphyria: high frequency of the splice site modulator IVS3-48C polymorphism in the Japanese population. J Invest Dermatol 2006; 126: 2717-2719 1) Anderson KE, Sassa S, Bishop DF, et al. The Metabolic and Molecular Bases of Inherited Disease, Edited by CR Scriver et al. 8th edn, McGraw Hill, New York, 2001, p2991-3062 3) 中野 創. ヘム合成経路とポルフィリン症. MB Derma 2012; 191: 25-30 2) Todd DJ. Erythropoietic protoporphyria. Br J Dermatol 1994; 131: 751-766 8) Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. Engl J Med 2017; 377: 862-872 14) Thapar M, Bonkovsky HL. The diagnosis and management of erythropoietic protoporphyria. Gastroenterol Hepatol (N Y) 2008; 4: 561-566 10) 清水 宏. ポルフィリン症. 「新しい皮膚科学」清水 宏編, 中山書店, 東京, 2011, p282-285 26) Noyman Y, Edel Y, Snast I, et al. Inherited genetic late-onset erythropoietic protoporphyria: A systematic review of the literature. Photodermatol Photoimmunol Photomed 2021; 37: 374-379 |
| References_xml | – reference: 6) Anstey AV, Hift RJ. Liver disease in erythropoietic protoporphyria: insights and implications for management. Gut 2007; 56: 1009-1018 – reference: 8) Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. Engl J Med 2017; 377: 862-872 – reference: 23) Coffey A, Leung DH, Quintanilla NM. Erythropoietic Protoporphyria: Initial Diagnosis With Cholestatic Liver Disease. Pediatrics 2018; 141 (Suppl 5): S445-S450 – reference: 20) Berroeta L, Man I, Goudie DR, et al. Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members. Br J Dermatol 2007; 157: 1030-1031 – reference: 12) McGuire BM, Bonkovsky HL, Carithers RL Jr, et al. Liver transplantation for erythropoietic protoporphyria liver disease. Liver Transpl 2005; 11: 1590-1596 – reference: 5) Singal AK, Parker C, Bowden C, et al. Liver transplantation in the management of porphyria. Hepatology 2014; 60: 1082-1089 – reference: 14) Thapar M, Bonkovsky HL. The diagnosis and management of erythropoietic protoporphyria. Gastroenterol Hepatol (N Y) 2008; 4: 561-566 – reference: 22) Zhao C, Guan JX, Hui DY, et al. Liver involvement in patients with erythropoietic protoporphyria: retrospective analysis of clinicopathological features of 5 cases. Ann Diagn Pathol 2022; 56: 151859 – reference: 7) Alvarez F, Berg PA, Bianchi FB, et al. International Autoimmune Hepatitis Group Report: review of criteria for diagnosis of autoimmune hepatitis. J Hepatol 1999; 31: 929-938 – reference: 10) 清水 宏. ポルフィリン症. 「新しい皮膚科学」清水 宏編, 中山書店, 東京, 2011, p282-285 – reference: 3) 中野 創. ヘム合成経路とポルフィリン症. MB Derma 2012; 191: 25-30 – reference: 1) Anderson KE, Sassa S, Bishop DF, et al. The Metabolic and Molecular Bases of Inherited Disease, Edited by CR Scriver et al. 8th edn, McGraw Hill, New York, 2001, p2991-3062 – reference: 11) Holme SA, Worwood M, Anstey AV, et al. Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria. Blood 2007; 110: 4108-4110 – reference: 13) 穴井盛靖, 宮瀬志保, 石貫敬子, 他. 重篤な肝障害を来した骨髄性プロトポルフィリン症の1例. 肝臓 2016; 57: 227-232 – reference: 19) Nakano H, Nakano A, Toyomaki Y, et al. Novel ferrochelatase mutations in Japanese patients with erythropoietic protoporphyria: high frequency of the splice site modulator IVS3-48C polymorphism in the Japanese population. J Invest Dermatol 2006; 126: 2717-2719 – reference: 17) Gouya L, Deybach JC, Lamoril J, et al. Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele. Am J Hum Genet 1996; 58: 292-299 – reference: 9) Casanova-González MJ, Trapero-Marugán M, Jones EA, et al. Liver disease and erythropoietic protoporphyria: a concise review. World J Gastroenterol 2010; 16: 4526-4531 – reference: 16) Gouya L, Puy H, Robreau AM, et al. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. Nat Genet 2002; 30: 27-28 – reference: 4) Wahlin S, Floderus Y, Ros AM, et al. The difficult clinical diagnosis of erythropoietic protoporphyria. Physiol Res 2006; 55 (Suppl 2): S155-157 – reference: 26) Noyman Y, Edel Y, Snast I, et al. Inherited genetic late-onset erythropoietic protoporphyria: A systematic review of the literature. Photodermatol Photoimmunol Photomed 2021; 37: 374-379 – reference: 18) Gouya L, Puy H, Lamoril J, et al. Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation. Blood 1999; 93: 2105-2110 – reference: 25) Komatsu H, Ishii K, Imamura K, et al. A case of erythropoietic protoporphyria with liver cirrhosis suggesting a therapeutic value of supplementation with alpha-tocopherol. Hepatol Res 2000; 18: 298-309 – reference: 15) Went LN, Klasen EC. Genetic aspects of erythropoietic protoporphyria. Ann Hum Genet 1984; 48: 105-117 – reference: 2) Todd DJ. Erythropoietic protoporphyria. Br J Dermatol 1994; 131: 751-766 – reference: 21) Noyman Y, Edel Y, Snast I, et al. Inherited genetic late-onset erythropoietic protoporphyria: A systematic review of the literature. Photodermatol Photoimmunol Photomed 2021; 37: 374-379 – reference: 24) Lecha M, Puy H, Deybach JC. Erythropoietic protoporphyria. Orphanet J Rare Dis 2009; 4: 19 |
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| SubjectTerms | IVS3-48C マルタ十字 自己免疫性肝炎 赤芽球性プロトポルフィリン症 高齢発症 |
| Title | 剖検により診断された高齢発症の赤芽球性プロトポルフィリン症の1例 |
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