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摘要: 本文报道1例因反复头晕、腹泻、肢体麻木等多系统受累症状就诊而确诊为转甲状腺素蛋白心脏淀粉样变的患者。患者因“头晕1周余”入院,经完善免疫固定电泳、超声心动图、心脏磁共振、心脏核素、基因等相关检查,最终确诊为转甲状腺素蛋白心脏淀粉样变(突变型),给予氯苯唑酸特异性治疗后病情好转。Abstract: This article reports a case of transthyretin cardiac amyloidosis(ATTR-CA) who was diagnosed because of repeated dizziness, diarrhea, limb numbness, and other symptoms of multi-system involvement. The patient was admitted due to dizziness for more than 1 week, and was finally diagnosed with mutant ATTR-CA(ATTRm) after completing immunofixation electrophoresis, echocardiography, cardiac magnetic resonance, 99 mTc-pyrophosphate(99 mTc-PYP), gene and other related examinations. After specific treatment with tafamidis, the patient's condition was improved and discharged.
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Key words:
- transthyretin /
- amyloidosis /
- cardiomyopathy
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[1] Maurer MS, Hanna M, Grogan M, et al. Genotype and Phenotype of Transthyretin Cardiac Amyloidosis: THAOS(Transthyretin Amyloid Outcome Survey)[J]. J Am Coll Cardiol, 2016, 68(2): 161-172. doi: 10.1016/j.jacc.2016.03.596
[2] 周京敏, 徐亚妹. 心脏淀粉样变: 现在与未来[J]. 临床心血管病杂志, 2023, 39(4): 255-259. https://lcxxg.whuhzzs.com/article/doi/10.13201/j.issn.1001-1439.2023.04.004
[3] 中华医学会心血管病学分会心力衰竭学组, 中华心血管病杂志编辑委员会. 转甲状腺素蛋白心脏淀粉样变诊断与治疗中国专家共识[J]. 中华心血管病杂志, 2021, 49(4): 324-332. https://www.cnki.com.cn/Article/CJFDTOTAL-HJBI202301009.htm
[4] 王前程, 刘伟涛, 周忠江. 提高对甲状腺素转运蛋白淀粉样变性心肌病诊治的认识[J]. 心血管病学进展, 2021, 42(3): 228-231+243. https://www.cnki.com.cn/Article/CJFDTOTAL-XXGB202103009.htm
[5] Chen Q, Yuan L, Deng X, et al. A Missense Variant p. Ala117Ser in the Transthyretin Gene of a Han Chinese Family with Familial Amyloid Polyneuropathy[J]. Mol Neurobiol, 2018, 55(6): 4911-4917. doi: 10.1007/s12035-017-0694-0
[6] 田庄, 张抒扬. 《转甲状腺素蛋白心脏淀粉样变诊断与治疗中国专家共识》解读及诊断路径更新[J]. 罕见病研究, 2023, 2(1): 63-69. https://www.cnki.com.cn/Article/CJFDTOTAL-HJBI202301009.htm
[7] Ando Y, Coelho T, Berk JL, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians[J]. Orphanet J Rare Dis, 2013, 8: 31. doi: 10.1186/1750-1172-8-31
[8] Fox JC, Hellawell JL, Rao S, et al. First-in-Human Study of AG10, a Novel, Oral, Specific, Selective, and Potent Transthyretin Stabilizer for the Treatment of Transthyretin Amyloidosis: A Phase 1 Safety, Tolerability, Pharmacokinetic, and Pharmacodynamic Study in Healthy Adult Volunteers[J]. Clin Pharmacol Drug Dev, 2020, 9(1): 115-129. doi: 10.1002/cpdd.700
[9] Lane T, Fontana M, Martinez-Naharro A, et al. Naturalhistory, quality of life, and outcome in cardiac transthyretinamyloidosis[J]. Circulation, 2019, 140(1): 16-26.