パチシランにより早期から6分間歩行試験で改善を認めたATTRvアミロイドーシスの1例
症例は65歳，男性．2年半前から両手指の痺れ感で発症し，下肢筋力低下，筋萎縮，起立性低血圧症状が緩徐に進行した．トランスサイレチン（transthyretin，以下TTRと略記）遺伝子V30M（p.V50M）変異を認め，遺伝性ATTRアミロイドーシス（ATTRvアミロイドーシス）と診断した．パチシラン投与開始後3週目から6分間歩行試験で歩行距離の改善を認めた．パチシラン治療による，治療開始早期からの臨床症状改善例として報告する．...
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| Published in | 臨床神経学 Vol. 62; no. 5; pp. 375 - 379 |
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| Main Authors | , , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
日本神経学会
2022
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0009-918X 1882-0654 |
| DOI | 10.5692/clinicalneurol.cn-001693 |
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| Abstract | 症例は65歳，男性．2年半前から両手指の痺れ感で発症し，下肢筋力低下，筋萎縮，起立性低血圧症状が緩徐に進行した．トランスサイレチン（transthyretin，以下TTRと略記）遺伝子V30M（p.V50M）変異を認め，遺伝性ATTRアミロイドーシス（ATTRvアミロイドーシス）と診断した．パチシラン投与開始後3週目から6分間歩行試験で歩行距離の改善を認めた．パチシラン治療による，治療開始早期からの臨床症状改善例として報告する． |
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| AbstractList | 症例は65歳，男性．2年半前から両手指の痺れ感で発症し，下肢筋力低下，筋萎縮，起立性低血圧症状が緩徐に進行した．トランスサイレチン（transthyretin，以下TTRと略記）遺伝子V30M（p.V50M）変異を認め，遺伝性ATTRアミロイドーシス（ATTRvアミロイドーシス）と診断した．パチシラン投与開始後3週目から6分間歩行試験で歩行距離の改善を認めた．パチシラン治療による，治療開始早期からの臨床症状改善例として報告する． |
| Author | 石原, 智彦 畠野, 雄也 荻根沢, 真也 柏村, 健 小野寺, 理 岩渕, 洋平 |
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| References | 10) Okamoto S, Yamashita T, Ando Y, et al. Evaluation of myocardial changes in familial amyloid polyneuropathy after liver transplantation. Internal Medicine 2008;47:2133-2137. 8) Adams D, Polydefkis M, Gonzalez-Duarte A, et al. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study. Lancet Neurol 2021;20:49-59. 15) Oshima T, Kawahara S, Ueda M, et al. Changes in pathological and biochemical findings of systemic tissue sites in familial amyloid polyneuropathy more than 10 years after liver transplantation. J Neurol Neurosurg Psychiatry 2014;85:740-746. 2) Yamashita T, Ando Y, Okamoto S, et al. Long-term survival after liver transplantation in patients with familial amyloid polyneuropathy. Neurology 2012;78:637-643. 1) Yamashita T, Ueda M, Misumi Y, et al. Genetic and clinical characteristics of hereditary transthyretin amyloidosis in endemic and non-endemic areas: experience from a single-referral center in Japan. J Neurol 2018;265:134-140. 4) Coelho T, Maia LF, da Silva AM, et al. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology 2012;79:785-792. 5) Maurer MS, Schwartz JH, Gundapaneni B, et al. Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy. N Engl J Med 2018;379:1007-1016. 13) Vong C, Boucher M, Riley S, et al. Modeling of survival and frequency of cardiovascular-related hospitalization in patients with transthyretin amyloid cardiomyopathy treated with tafamidis. Am J Cardiovasc Drugs 2021. 6) Adams D, Gonzalez-Duarte A, O'Riordan WD, et al. Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N Engl J Med 2018;379:11-21. 16) Koike H, Hashimoto R, Tomita M, et al. Impact of aging on the progression of neuropathy after liver transplantation in transthyretin Val30Met amyloidosis. Muscle Nerve 2012;46:961-964. 9) Okumura K, Yamashita T, Masuda T, et al. Long-term outcome of patients with hereditary transthyretin V30M amyloidosis with polyneuropathy after liver transplantation. Amyloid 2016;23:39-45. 11) Liepnieks JJ, Zhang LQ, Benson MD. Progression of transthyretin amyloid neuropathy after liver transplantation. Neurology 2010;75:324-327. 14) Koike H, Misu K, Sugiura M, et al. Pathology of early-vs late-onset TTR Met30 familial amyloid polyneuropathy. Neurology 2004;63:129-138. 7) Enright PL, Sherrill DL. Reference equations for the six-minute walk in healthy adults. Am J Respir Crit Care Med 1998;158:1384-1387. 3) Koike H, Misu K, Ikeda S, et al. Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form. Arch Neurol 2002;59:1771-1776. 12) Vita GL, Stancanelli C, Gentile L, et al. 6MWT performance correlates with peripheral neuropathy but not with cardiac involvement in patients with hereditary transthyretin amyloidosis (hATTR). Neuromuscular Disorders 2019;29:213-220. |
| References_xml | – reference: 7) Enright PL, Sherrill DL. Reference equations for the six-minute walk in healthy adults. Am J Respir Crit Care Med 1998;158:1384-1387. – reference: 16) Koike H, Hashimoto R, Tomita M, et al. Impact of aging on the progression of neuropathy after liver transplantation in transthyretin Val30Met amyloidosis. Muscle Nerve 2012;46:961-964. – reference: 1) Yamashita T, Ueda M, Misumi Y, et al. Genetic and clinical characteristics of hereditary transthyretin amyloidosis in endemic and non-endemic areas: experience from a single-referral center in Japan. J Neurol 2018;265:134-140. – reference: 3) Koike H, Misu K, Ikeda S, et al. Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form. Arch Neurol 2002;59:1771-1776. – reference: 11) Liepnieks JJ, Zhang LQ, Benson MD. Progression of transthyretin amyloid neuropathy after liver transplantation. Neurology 2010;75:324-327. – reference: 13) Vong C, Boucher M, Riley S, et al. Modeling of survival and frequency of cardiovascular-related hospitalization in patients with transthyretin amyloid cardiomyopathy treated with tafamidis. Am J Cardiovasc Drugs 2021. – reference: 9) Okumura K, Yamashita T, Masuda T, et al. Long-term outcome of patients with hereditary transthyretin V30M amyloidosis with polyneuropathy after liver transplantation. Amyloid 2016;23:39-45. – reference: 15) Oshima T, Kawahara S, Ueda M, et al. Changes in pathological and biochemical findings of systemic tissue sites in familial amyloid polyneuropathy more than 10 years after liver transplantation. J Neurol Neurosurg Psychiatry 2014;85:740-746. – reference: 6) Adams D, Gonzalez-Duarte A, O'Riordan WD, et al. Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N Engl J Med 2018;379:11-21. – reference: 4) Coelho T, Maia LF, da Silva AM, et al. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology 2012;79:785-792. – reference: 8) Adams D, Polydefkis M, Gonzalez-Duarte A, et al. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study. Lancet Neurol 2021;20:49-59. – reference: 10) Okamoto S, Yamashita T, Ando Y, et al. Evaluation of myocardial changes in familial amyloid polyneuropathy after liver transplantation. Internal Medicine 2008;47:2133-2137. – reference: 12) Vita GL, Stancanelli C, Gentile L, et al. 6MWT performance correlates with peripheral neuropathy but not with cardiac involvement in patients with hereditary transthyretin amyloidosis (hATTR). Neuromuscular Disorders 2019;29:213-220. – reference: 14) Koike H, Misu K, Sugiura M, et al. Pathology of early-vs late-onset TTR Met30 familial amyloid polyneuropathy. Neurology 2004;63:129-138. – reference: 2) Yamashita T, Ando Y, Okamoto S, et al. Long-term survival after liver transplantation in patients with familial amyloid polyneuropathy. Neurology 2012;78:637-643. – reference: 5) Maurer MS, Schwartz JH, Gundapaneni B, et al. Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy. N Engl J Med 2018;379:1007-1016. |
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| SubjectTerms | 6分間歩行試験 ATTRvアミロイドーシス V30M変異 パチシラン 末梢神経障害 |
| Title | パチシランにより早期から6分間歩行試験で改善を認めたATTRvアミロイドーシスの1例 |
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