[1]黎铸,秦俭,罗素新,等.转甲状腺素蛋白淀粉样变心肌病生物标志物的研究进展[J].心血管病学进展,2023,(12):1120.[doi:10.16806/j.cnki.issn.1004-3934.2023.12.015]
　LI Zhu,QIN Jian,LUO Suxin,et al.Biomarkers in?Transthyretin Amyloid Cardiomyopathy[J].Advances in Cardiovascular Diseases,2023,(12):1120.[doi:10.16806/j.cnki.issn.1004-3934.2023.12.015]
点击复制

转甲状腺素蛋白淀粉样变心肌病生物标志物的研究进展()
分享到：

《心血管病学进展》[ISSN:51-1187/R/CN:1004-3934]

卷:
期数:
2023年12期
页码:
1120
栏目:
综述
出版日期:
2023-12-25

文章信息/Info

Title:
Biomarkers in?Transthyretin Amyloid Cardiomyopathy
作者:
黎铸; 秦俭; 罗素新;  黄毕
(重庆医科大学附属第一医院心血管内科,重庆 400042)
Author(s):
LI Zhu; QIN Jian; LUO Suxin; HUANG Bi
(Department of Cardiologyhe First Affiliated Hospital of Chongqing Medical University,Chongqing 400042,China)
关键词:
生物; 视黄醇结合蛋白; 非天然甲状腺素; 多肽探针; 神经丝轻链
Keywords:
Transthyretin amyloid cardiomyopathy;  Biomarkers;  Retinol-binding protein;  Nonnative transthyretin;  Peptide probes;  Neurofilament light chain
DOI:
10.16806/j.cnki.issn.1004-3934.2023.12.015
摘要:
ATTR-CM是一种浸润性心肌病，近年来越来越受到重视。由于临床表现缺乏特异性，ATTR-CM的误诊率和漏诊率均较高。随着对该病的重视及研究的深入，近年来对ATTR-CM的认识取得了一定的进展。生物标志物对疾病的诊断具有重要价值，虽然目前尚无ATTR-CM特异性的生物标志物，但一些生物标志物已被证实和ATTR-CM相关，对ATTR-CM的辅助诊断具有一定的价值。综述近年来ATTR-CM相关的生物标志物的进展。
Abstract:
Transthyretin amyloid cardiomyopathy (ATTR-CM) is an infiltrative cardiomyopathyand recently more attention has been paid on it. Due to the lack of specificity of clinical manifestations,there remains substantial delay between initial symptoms and diagnosis. The understanding of ATTR-CM has made some progress with the attention to the disease in recent years. Biomarkers are of great value in the diagnosis of diseases. Although there is lack of specific biomarker for ATTR-CM at present,some biomarkers have been confirmed to be related to ATTR-CM and have certain value in the auxiliary diagnosis of ATTR-CM. This article reviews the recent progress of biomarkers related to ATTR-CM

参考文献/References:

[1] 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专家共识[J]. 中华心血管病杂志2021,49(4): 324-332.
[2] Castiglione V,Franzini M,Aimo A,et al. Use of biomarkers to diagnose and manage cardiac amyloidosis[J]. Eur J Heart Fail,2021,23(2):217-230.
[3] Lehrke S,Steen H,Kristen AV,et al. Serum levels of NT-proBNP as surrogate for cardiac amyloid burden:new evidence from gadolinium-enhanced cardiac magnetic resonance imaging in patients with amyloidosis[J]. Amyloid,2009,16(4):187-195.
[4] Vergaro G,Aimo A,Campora A,et al. Patients with cardiac amyloidosis have a greater neurohormonal activation than those with non-amyloidotic heart failure[J]. Amyloid,2021,28(4):252-258.
[5] Law S,Petrie A,Chacko L,et al. Change in N-terminal pro-B-type natriuretic peptide at 1 year predicts mortality in wild-type transthyretin amyloid cardiomyopathy[J]. Heart,2022,108(6):474-478.
[6] Takashio S,Yamamuro M,Izumiya Y,et al. Diagnostic utility of cardiac troponin T level in patients with cardiac amyloidosis[J]. ESC Heart Fail,2018,5(1):27-35.
[7] Martyn T,Saef J,Hussain M,et al. The association of cardiac biomarkers,the intensity of Tc99 pyrophosphate uptake,and survival in patients evaluated for transthyretin cardiac amyloidosis in the early therapeutics era[J]. J Card Fail,2022,28(10):1509-1518.
[8] Perfetto F,Zampieri M,Fumagalli C,et al. Circulating biomarkers in diagnosis and management of cardiac amyloidosis:a review for internist[J]. Intern Emerg Med,2022,17(4):957-969.
[9] Oghina S,Josse C,Bézard M,et al. Prognostic value of N-terminal pro-brain natriuretic peptide and high-sensitivity troponin T levels in the natural history of transthyretin amyloid cardiomyopathy and their evolution after tafamidis treatment[J]. J Clin Med,2021,10(21):4868.
[10] Grogan M,Scott CG,Kyle RA,et al. Natural history of wild-type transthyretin?cardiac amyloidosis and?risk stratification using a novel?staging system[J]. J Am Coll Cardiol,2016,68(10):1014-1020.
[11] Gillmore JD,Damy T,Fontana M,et al. A new staging system for cardiac transthyretin amyloidosis[J]. Eur Heart J,2018,39(30):2799-2806.
[12] Nakashima N,Takashio S,Morioka M,et al. A simple staging system using biomarkers for wild-type transthyretin amyloid cardiomyopathy in Japan[J]. ESC Heart Fail,2022,9(3):1731-1739.
[13] Garcia-Pavia P,Bengel F,Brito D,et al. Expert consensus on the monitoring of transthyretin amyloid cardiomyopathy[J]. Eur J Heart Fail,2021,23(6):895-905.
[14] Hanson J,Arvanitis M,Koch CM,et al. Use of serum transthyretin as a prognostic indicator and predictor of outcome in cardiac amyloid disease associated with wild-type transthyretin[J]. Circ Heart Fail,2018,11(2):e004000.
[15] Greve AM,Christoffersen M,Frikke-Schmidt R,et al. Association of low plasma transthyretin concentration with risk of heart failure in the general population[J]. JAMA Cardiol,2021,6(3):258-266.
[16] Adams D,Gonzalez-Duarte A,O’Riordan WD,et al. Patisiran,an RNAi therapeutic,for hereditary transthyretin amyloidosis[J]. N Engl J Med,2018,379(1):11-21.
[17] Falk RH,Haddad M,Walker CR,et al. Effect of tafamidis on serum transthyretin levels in non-trial patients?with transthyretin amyloid?cardiomyopathy[J]. JACC CardioOncol,2021,3(4):580-586.
[18] Judge DP,Heitner SB,Falk RH,et al. Transthyretin stabilization by AG10 in symptomatic transthyretin amyloid?cardiomyopathy[J]. J Am Coll Cardiol,2019,74(3):285-295.
[19] de Lillo A,de Angelis F,di Girolamo M,et al. Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses[J]. Hum Genet,2019,138(11-12):1331-1340.
[20] Santos D,Coelho T,Alves-Ferreira M,et al. Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M)[J]. Eur J Hum Genet,2016,24(5):756-760.
[21] Arvanitis M,Simon S,Chan G,et al. Retinol binding protein 4(RBP4) concentration identifies V122I transthyretin cardiac amyloidosis[J]. Amyloid,2017,24(sup1):120-121.
[22] Arvanitis M,Koch CM,Chan GG,et al. Identification of transthyretin cardiac amyloidosis using serum retinol-binding protein 4 and a clinical prediction model[J]. JAMA Cardiol,2017,2(3):305-313.
[23] Kontorovich AR,Abul-Husn NS. Retinol binding protein 4 as a screening biomarker for hereditary TTR amyloidosis in African American adults with TTR V142I[J]. J Card Fail,2021,27(9):1020-1022.
[24] Jiang X,Labaudinière R,Buxbaum JN,et al. A circulating,disease-specific,mechanism-linked biomarker for ATTR polyneuropathy diagnosis and response to therapy prediction[J]. Proc Natl Acad Sci U S A,2021,118(9):e2016072118.
[25] Childers MC,Daggett V. Edge strand dissociation and conformational changes in transthyretin under amyloidogenic conditions[J]. Biophys J,2020,119(10):1995-2009.
[26] Schonhoft JD,Monteiro C,Plate L,et al. Peptide probes detect misfolded transthyretin oligomers in plasma of hereditary amyloidosis patients[J]. Sci Transl Med,2017,9(407):eaam7621.
[27] Hood CJ,Hendren NS,Pedretti R,et al. Update on disease-specific biomarkers in transthyretin cardiac amyloidosis[J]. Curr Heart Fail Rep,2022,19(5):356-363.
[28] Luigetti M,di Paolantonio A,Guglielmino V,et al. Neurofilament light chain as a?disease severity biomarker in ATTRv:data from a single-centre experience[J]. Neurol Sci,2022,43(4):2845-2848.
[29] Loser V,Benkert P,Vicino A,et al. Serum neurofilament light chain as a reliable biomarker of hereditary transthyretin-related amyloidosis－A Swiss reference center experience[J]. J Peripher Nerv Syst,2023,28(1):86-97.
[30] Maia LF,Maceski A,Concei??o I,et al. Plasma neurofilament light chain:an early biomarker for hereditary ATTR amyloid polyneuropathy[J]. Amyloid,2020,27(2):97-102.
[31] Cheng X,Su Y,Wang Q,et al. Neurofilament light chain predicts risk of recurrence in cerebral amyloid angiopathy-related intracerebral hemorrhage[J]. Aging (Albany NY),2020,12(23):23727-23738.
[32] Louwsma J,Brunger AF,Bijzet J,et al. Neurofilament light chain,a biomarker for polyneuropathy in systemic amyloidosis[J]. Amyloid,2021,28(1):50-55.
[33] Ticau S,Sridharan GV,Tsour S,et al. Neurofilament light chain as a biomarker of hereditary transthyretin-mediated amyloidosis[J]. Neurology,2021,96(3):e412-e422.
[34] Maurer MS,Bokhari S,Damy T,et al. Expert consensus recommendations for the suspicion and diagnosis of transthyretin cardiac amyloidosis[J]. Circ Heart Fail,2019,12(9):e006075.
[35] Kagan J,Cabanero M,Wieczorek R,et al. Can serum free light chains be used for the early diagnosis of monoclonal immunoglobulin-secreting B-cell and plasma-cell diseases?[J]. Fed Pract,2016,33(suppl 5):36S-39S.
[36] Gillmore JD,Maurer MS,Falk RH,et al. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis[J]. Circulation,2016,133(24):2404-2412.
[37] Phull P,Sanchorawala V,Connors LH,et al. Monoclonal gammopathy of undetermined significance in systemic transthyretin amyloidosis(ATTR)[J]. Amyloid,2018,25(1):62-67.
[38] Hoffman JE,Sultan MB,Gundapaneni B,et al. Free light-chain levels in patients with transthyretin amyloid cardiomyopathy in ATTR-ACT[J]. Blood,2021,138 (Supple 1):3787.

备注/Memo

备注/Memo:
收稿日期：2023-02-09基金项目：重庆医科大学未来医学青年创新团队支持计划（NO.0184）
更新日期/Last Update: 2024-01-19