Clinical biochemistry最新文献

英文中文

Reply to Letter to the Editor “The importance of SII and FIB-4 scores in predicting mortality in idiopathic pulmonary fibrosis patients” 回复致编辑的信 "SII 和 FIB-4 评分在预测特发性肺纤维化患者死亡率方面的重要性"。

IF 2.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinical biochemistry

Pub Date : 2024-11-07 DOI: 10.1016/j.clinbiochem.2024.110837

Gorkem Berna Koyun, Serdar Berk, Omer Tamer Dogan

引用次数: 0

Carrier frequency and molecular basis of hemoglobinopathies among blood donors in eastern Morocco: Implications for blood donation and genetic diagnosis 摩洛哥东部献血者中血红蛋白病的携带者频率和分子基础：对献血和基因诊断的影响。

IF 2.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinical biochemistry

Pub Date : 2024-11-06 DOI: 10.1016/j.clinbiochem.2024.110840

Ihab Belmokhtar , Karam Yahya Belmokhtar , Saida Lhousni , Majida Charif , Zaina Sidqi , Rachid Seddik , Mohammed Choukri , Mohammed Bellaoui , Redouane Boulouiz

Background

Hemoglobinopathies represent the most commonly inherited autosomal recessive blood disorders in the world. The aim of this study was to determine the carrier frequency and molecular basis of hemoglobinopathies among blood donors in eastern Morocco. This is the first study of its kind for this country.

Methods

Healthy blood donors of the BRO Biobank were included in this study. Blood samples were analyzed using an automatic blood cell analyzer for complete blood counts. Hemoglobin fractions were analyzed by capillary electrophoresis and serum ferritin was measured on a chemical and immunological analyzer. Suspected hemoglobinopathy carriers were further characterized by Sanger sequencing, Gap PCR and PCR-RFLP.

Results

The study involved 2013 blood donors, of whom 1063 were male and 950 were female (sex ratio male-to-female of 1.1). The median age of these donors was 35 years. The overall carrier frequency of hemoglobinopathies was 1.84 %, with β-thalassemia carriers being the most prevalent (0.65 %) followed by HbAC (0.55 %), α-thalassemia carriers (0.30 %), HbAS (0.1 %), HbAG-Philadelphia (0.1 %), HbAD-Ouled Rabah (0.05 %) and HbAO-Arab (0.05 %). Additionally, novel β-thalassemia variants (C6(−G) and −83(A > G)) and a structural variant (Hb D-Ouled Rabah) were discovered for the first time in Morocco.

Conclusions

This study provided the first report on carrier frequency and molecular basis of hemoglobinopathies among healthy donors in Morocco. These findings are valuable for the implementation of carrier screening and genetic diagnosis for hemoglobinopathies. Furthermore, these results justify the need to introduce pre-donation screening for hemoglobinopathy carriers in Morocco, particularly in areas with a high prevalence of carriers to enhance the overall quality of the national blood supply.

背景：血红蛋白病是世界上最常见的常染色体隐性遗传血液病。这项研究的目的是确定摩洛哥东部献血者中血红蛋白病的携带者频率和分子基础。方法：本研究纳入了 BRO 生物库的健康献血者。使用自动血细胞分析仪对血样进行全血细胞计数分析。用毛细管电泳分析血红蛋白组分，用化学和免疫分析仪测量血清铁蛋白。通过桑格测序、Gap PCR 和 PCR-RFLP 对疑似血红蛋白病携带者进行进一步鉴定：研究涉及 2013 名献血者，其中男性 1063 人，女性 950 人（男女性别比为 1.1）。这些献血者的年龄中位数为 35 岁。血红蛋白病的总携带率为 1.84%，其中β-地中海贫血携带者最多（0.65%），其次是 HbAC（0.55%）、α-地中海贫血携带者（0.30%）、HbAS（0.1%）、HbAG-费城（0.1%）、HbAD-Ouled Rabah（0.05%）和 HbAO-阿拉伯（0.05%）。此外，摩洛哥还首次发现了新型β地中海贫血变异体（C6(-G)和-83(A > G)）和一种结构变异体（Hb D-Ouled Rabah）：本研究首次报告了摩洛哥健康捐献者中血红蛋白病的携带者频率和分子基础。这些发现对实施血红蛋白病的携带者筛查和基因诊断很有价值。此外，这些结果证明有必要在摩洛哥对血红蛋白病携带者进行献血前筛查，尤其是在携带者高发地区，以提高全国血液供应的整体质量。

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引用次数: 0

Quantitative evaluation of adalimumab and anti-adalimumab antibodies in sera using a surface plasmon resonance biosensor 利用表面等离子体共振生物传感器定量评估血清中的阿达木单抗和抗阿达木单抗抗体

IF 2.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinical biochemistry

Pub Date : 2024-11-01 DOI: 10.1016/j.clinbiochem.2024.110838

Andrea Di Santo , Matteo Accinno , Fosca Errante , Manuela Capone , Alessandra Vultaggio , Eleonora Simoncini , Giuditta Zipoli , Lorenzo Cosmi , Francesco Annunziato , Paolo Rovero , Feliciana Real Fernandez

Objectives

Monitoring of therapeutic antibody adalimumab (ADL) and of anti-adalimumab antibodies (AAA) in autoimmune diseases patients' sera has achieved increased attention since several studies showed a correlation between AAA levels and treatment failure. We evaluated a new surface plasmon resonance (SPR)-based method that, with slight changes in the analysis condition and in the ligand immobilized on the chip surface, allows to monitor both AAA and ADL. This new label-free method does not require sample pretreatments, and it is fully automated, only requiring the preparation of the chip, which can be used for multiple analysis, and the preparation of the sample sets.

Design & Methods

Sera from ADL-treated patients (n = 47) and controls (n = 13) were included in this study. Quantitative analysis of AAA and ADL were performed separately using a new SPR-biosensor, and a commercially available ELISA kit. Agreement was defined by overall, positive, and negative agreement. Wilson Score was used to calculate confidence intervals (CI) on binomial probability and Spearman’s rho and Bland-Altman test were used to assess correlations.

Results

ELISA and SPR-based assay were able to identify circulating AAA in ADL-treated patients, with the percentage of positivity varying among the methods, with an overall agreement of 79%. AAA were detected in 18 (38 %) out of the 47 treated patients by the ELISA whereas SPR-based assay detected 10 (21 %) out of 47 samples.

Conclusions

Real-time label free SPR-based protocol for both AAA and ADL quantification has been set-up. Although quantitative differences were observed when compared with ELISA, the agreement among methodologies was high, particularly for ADL quantification within the therapeutic window of the drug.

目的：自从几项研究表明阿达木单抗抗体水平与治疗失败之间存在相关性以来，对自身免疫性疾病患者血清中的治疗抗体阿达木单抗（ADL）和抗阿达木单抗抗体（AAA）进行监测就受到了越来越多的关注。我们评估了一种基于表面等离子体共振（SPR）的新方法，只要稍微改变分析条件和固定在芯片表面的配体，就能同时监测 AAA 和 ADL。这种新的无标记方法不需要对样品进行预处理，而且是全自动的，只需要准备芯片（可用于多次分析）和准备样品集：本研究纳入了ADL治疗患者（47人）和对照组（13人）的血清。使用新型 SPR 生物传感器和市售 ELISA 试剂盒分别对 AAA 和 ADL 进行定量分析。一致性由总体、阳性和阴性一致性定义。结果：ELISA和基于SPR的检测方法能够识别ADL治疗患者体内的循环AAA，不同方法的阳性率不同，总体一致性为79%。ELISA法检测出47名接受治疗的患者中有18人（38%）体内存在AAA，而SPR法检测出47份样本中有10人（21%）体内存在AAA：结论：基于实时无标记 SPR 法的 AAA 和 ADL 定量方案已经建立。尽管与酶联免疫吸附法相比在定量方面存在差异，但各种方法之间的一致性很高，特别是在药物治疗窗内的 ADL 定量方面。

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引用次数: 0

Challenges and Perspectives on the Adoption of Cystatin C testing in China: A laboratory technician’s perspective 中国采用胱抑素 C 检测的挑战与前景：实验室技术人员的视角。

IF 2.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinical biochemistry

Pub Date : 2024-11-01 DOI: 10.1016/j.clinbiochem.2024.110839

Xiaerbanu Nizhamuding , Yang Liu , Jie Zeng , Haijian Zhao , Tianjiao Zhang , Chuanbao Zhang

Cystatin C (CysC) belongs to the cysteine protease inhibitor superfamily and is produced by all nucleated cells in the body in very stable amounts independent of age, sex, diet, and muscle mass. CysC is considered an ideal biomarker for assessing glomerular filtration rate (GFR) compared to traditional biomarkers for assessing GFR, such as creatinine. However, CysC is not sufficiently utilized for GFR assessment by clinicians, probably for various reasons such as insufficient understanding among clinicians or a lack of standardized quantitative methods. This review discusses and analyzes the aforementioned issues from the perspective of laboratory technicians.

胱抑素 C（CysC）属于半胱氨酸蛋白酶抑制剂超家族，由体内所有有核细胞产生，其含量非常稳定，不受年龄、性别、饮食和肌肉质量的影响。与评估肾小球滤过率（GFR）的传统生物标记物（如肌酐）相比，CysC 被认为是评估肾小球滤过率（GFR）的理想生物标记物。然而，临床医生并没有充分利用 CysC 来评估肾小球滤过率，这可能是由于临床医生对 CysC 的认识不足或缺乏标准化的定量方法等各种原因造成的。本综述从实验室技术人员的角度对上述问题进行了讨论和分析。

引用次数: 0

Inflammation and lipoperoxidation in mucopolysaccharidoses type II patients at diagnosis and post-hematopoietic stem cell transplantation 黏多醣症 II 型患者在诊断时和造血干细胞移植后的炎症和脂肪过氧化反应。

IF 2.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinical biochemistry

Pub Date : 2024-10-24 DOI: 10.1016/j.clinbiochem.2024.110834

Camila Aguilar Delgado , Franciele Fátima Lopes , Jéssica Lamberty Faverzani , Graziela Schmitt Ribas , Desirèe Padilha Marchetti , Carolina Fischinger Moura de Souza , Roberto Giugliani , Guilherme Baldo , Carmen Regla Vargas

Introduction

Mucopolysaccharidosis type II (MPS II) is caused by deficiency of the enzyme iduronate-2-sulfatase; one possible therapy for MPS II is hematopoietic stem cell transplantation (HSCT). It is established that there is excessive production of reactive species in MPS II patients, which can trigger several processes, such as the inflammatory cascade.

Objectives

Our aim was to outline an inflammatory profile and lipoperoxidation of MPS II patients for a better understanding of disease and possible benefits that HSCT can bring in these processes.

Materials and Methods

We investigate oxidative damage to lipids by 15-F2t-isoprostane urinary concentrations and plasma pro-and anti-inflammatory cytokine concentrations in MPS II patients at diagnosis, MPS II post-HSCT patients, and controls.

Results

Interleukin (IL)-1β and IL-17a concentrations were significantly increased and a tendency toward increased IL-6 production in the diagnosis group was verified. We found significant decrease in IL-4 and increase in 15-F2t-isoprostane concentrations in the diagnosis group, while IL-1β, IL-6, IL-17a and 15-F2t-isoprostane concentrations were similar between control and post-HSCT groups.

Conclusions

Our study demonstrated that MPS II patients at diagnosis are in a pro-inflammatory state, bringing a novel result showing increased production of IL-17a, an osteoclastogenic cytokine, as well as demonstrating that these patients have oxidative damage to lipids. Furthermore, evidence suggests that HSCT can reduce inflammation and lipoperoxidation in MPS II patients.

简介II 型黏多醣症（MPS II）是由于缺乏iduronate-2-sulfatase酶而引起的；造血干细胞移植（HSCT）是治疗MPS II的一种可能方法。目前已证实，MPS II 患者体内会产生过多的活性物质，从而引发多种过程，如炎症级联反应：我们的目的是概述 MPS II 患者的炎症特征和脂质过氧化反应，以便更好地了解疾病以及造血干细胞移植在这些过程中可能带来的益处：我们通过15-F2t-异前列腺烷尿浓度和血浆促炎和抗炎细胞因子浓度调查了MPS II患者诊断时、MPS II造血干细胞移植后和对照组的脂质氧化损伤情况：结果：白细胞介素（IL）-1β和IL-17a的浓度明显升高，而且确诊组中IL-6的产生有增加的趋势。我们发现诊断组的 IL-4 浓度明显下降，15-F2t-异前列腺烷浓度上升，而对照组和 HSCT 术后组的 IL-1β、IL-6、IL-17a 和 15-F2t- 异前列腺烷浓度相似：我们的研究表明，MPS II 患者在确诊时处于促炎症状态，这带来了一个新的结果，即破骨细胞生成细胞因子 IL-17a 的生成增加，同时还表明这些患者的脂质受到氧化损伤。此外，有证据表明造血干细胞移植可以减轻 MPS II 患者的炎症和脂质过氧化反应。

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引用次数: 0

Multidisciplinary approach to redefining thyroid hormone reference intervals with big data analysis 利用大数据分析重新定义甲状腺激素参考区间的多学科方法。

IF 2.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinical biochemistry

Pub Date : 2024-10-22 DOI: 10.1016/j.clinbiochem.2024.110835

Cody W. Lewis , Joshua E. Raizman , Victoria Higgins , Jessica L. Gifford , Christopher Symonds , Gregory Kline , Jacques Romney , Manpreet Doulla , Carol Huang , Allison A. Venner

Objectives

This study aimed to employ big data analysis to harmonize reference intervals (RI) for thyroid function tests, with refinement to the TSH upper reference limit, and to optimize the TSH reflex algorithm to improve clinical management and test utilization.

Design & methods

TSH, free T4, and free T3 results tested in Alberta, Canada, on Roche Cobas and Siemens Atellica were extracted from the laboratory information system (N = 1,144,155 for TSH, N = 183,354 for free T4 and N = 92,632 for free T3). Results from specialists, inpatients, or repeat testing, as well as from positive thyroid disease, autoimmune disease, and pregnancy biomarkers were excluded. RIs were derived using statistical models (Bhattacharya, refineR, and simple non-parametric) followed by endocrinology and laboratory review.

Results

The TSH RIs for 0 to 7 days, 8 days to 1 year, and ≥1 year were 1.23 to 25.0 mIU/L, 1.00 to 6.80 mIU/L and 0.20 to 6.50 mIU/L, respectively. The free T4 RIs for 0 to 14 days, 15 to 29 days, and ≥30 days were 13.5 to 50.0 pmol/L, 8.7 to 32.5 pmol/L, and 10.0 to 25.0 pmol/L, respectively. An updated TSH reflex algorithm was developed based on the optimized TSH and free T4 RIs, with free T4 reflexed only at a TSH of <0.1 mIU/L.

Conclusions

The collaboration of a multidisciplinary team and the utilization of big data analysis led to the enhancement of thyroid function RIs, specifically resulting in the widening of the upper TSH reference limit to 6.50. Application of these optimized RIs with the TSH reflex algorithm will serve as a guide for improvement in interpretation of thyroid function tests.

研究目的本研究旨在利用大数据分析来统一甲状腺功能检测的参考区间（RI），完善 TSH 参考上限，并优化 TSH 反射算法，以改善临床管理和检测利用率：从实验室信息系统中提取加拿大阿尔伯塔省使用罗氏Cobas和西门子Atellica检测的促甲状腺激素、游离T4和游离T3结果（促甲状腺激素结果为1,144,155，游离T4结果为183,354，游离T3结果为92,632）。专家、住院病人或重复检测的结果，以及甲状腺疾病、自身免疫性疾病和妊娠生物标记物的阳性结果均被排除在外。使用统计模型（Bhattacharya、refineR 和简单非参数）得出相关指数，然后由内分泌科和实验室进行复核：0至7天、8天至1年和≥1年的促甲状腺激素相关指数分别为1.23至25.0 mIU/L、1.00至6.80 mIU/L和0.20至6.50 mIU/L。0至14天、15至29天和≥30天的游离T4 RI分别为13.5至50.0 pmol/L、8.7至32.5 pmol/L和10.0至25.0 pmol/L。根据优化后的促甲状腺激素和游离 T4 RI，制定了最新的促甲状腺激素反射算法，游离 T4 仅在促甲状腺激素达到结论时反射：多学科团队的合作和大数据分析的应用提高了甲状腺功能相关指数，特别是将 TSH 参考上限扩大到了 6.50。将这些优化的RI与促甲状腺激素反射算法相结合，将为改进甲状腺功能检测的解释提供指导。

{"title":"Multidisciplinary approach to redefining thyroid hormone reference intervals with big data analysis","authors":"Cody W. Lewis , Joshua E. Raizman , Victoria Higgins , Jessica L. Gifford , Christopher Symonds , Gregory Kline , Jacques Romney , Manpreet Doulla , Carol Huang , Allison A. Venner","doi":"10.1016/j.clinbiochem.2024.110835","DOIUrl":"10.1016/j.clinbiochem.2024.110835","url":null,"abstract":"<div><h3>Objectives</h3><div>This study aimed to employ big data analysis to harmonize reference intervals (RI) for thyroid function tests, with refinement to the TSH upper reference limit, and to optimize the TSH reflex algorithm to improve clinical management and test utilization.</div></div><div><h3>Design & methods</h3><div>TSH, free T4, and free T3 results tested in Alberta, Canada, on Roche Cobas and Siemens Atellica were extracted from the laboratory information system (N = 1,144,155 for TSH, N = 183,354 for free T4 and N = 92,632 for free T3). Results from specialists, inpatients, or repeat testing, as well as from positive thyroid disease, autoimmune disease, and pregnancy biomarkers were excluded. RIs were derived using statistical models (Bhattacharya, refineR, and simple non-parametric) followed by endocrinology and laboratory review.</div></div><div><h3>Results</h3><div>The TSH RIs for 0 to 7 days, 8 days to 1 year, and ≥1 year were 1.23 to 25.0 mIU/L, 1.00 to 6.80 mIU/L and 0.20 to 6.50 mIU/L, respectively. The free T4 RIs for 0 to 14 days, 15 to 29 days, and ≥30 days were 13.5 to 50.0 pmol/L, 8.7 to 32.5 pmol/L, and 10.0 to 25.0 pmol/L, respectively. An updated TSH reflex algorithm was developed based on the optimized TSH and free T4 RIs, with free T4 reflexed only at a TSH of <0.1 mIU/L.</div></div><div><h3>Conclusions</h3><div>The collaboration of a multidisciplinary team and the utilization of big data analysis led to the enhancement of thyroid function RIs, specifically resulting in the widening of the upper TSH reference limit to 6.50. Application of these optimized RIs with the TSH reflex algorithm will serve as a guide for improvement in interpretation of thyroid function tests.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"133 ","pages":"Article 110835"},"PeriodicalIF":2.5,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142496118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Relationship between analytical imprecision and coefficient of determination (R2) of the calibration curve 分析不精确度与校准曲线测定系数 (R2) 之间的关系

IF 2.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinical biochemistry

Pub Date : 2024-10-10 DOI: 10.1016/j.clinbiochem.2024.110833

Wan Ling Cheng , Hui Qi Low , Suru Chew , Chun Yee Lim , Tze Ping Loh

引用次数: 0

Characterization of a novel 8.2 kb deletion causing beta-thalassemia 导致β地中海贫血症的新型 8.2 kb 缺失的特征。

IF 2.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinical biochemistry

Pub Date : 2024-10-05 DOI: 10.1016/j.clinbiochem.2024.110832

Ge Wang , Haoyang Huang , Li Chen , Qizhi Xiao , Wei Zhang , Qianqian Zhang

Background

Thalassemia is a prevalent monogenic blood disorder, clinically classified into alpha- and beta-thalassemia, characterized by the imbalance of the alpha- and beta-globin chains that constitute adult hemoglobin. Copy number variations (CNVs) and single nucleotide variants in globin genes are the primary genetic defects causing thalassemia.

Case report

During a prenatal examination, a pregnant woman was suspected to be a carrier of thalassemia, exhibiting microcytic hypochromic anemia and abnormal hemoglobin constituents. Gap-polymerase chain reaction (Gap-PCR) and reverse dot blot (PCR-RDB) techniques did not detect any common thalassemia mutations. We conducted hematological examination and further genetic analyses on the proband’s family with three generations. Multiplex ligation-dependent probe amplification (MLPA) was employed to identify CNVs, targeted next-generation sequencing was used to screen for potential pathogenic variants, which were subsequently validated by Sanger sequencing. The hematological parameters of the proband, her father and her son all indicated they were beta-thalassemia carriers. MLPA results revealed a large deletion in beta-globin cluster. Further investigation confirmed the presence of a novel 8.2 kb deletion (NC_000011.10:g.5224208_5232469del) in the proband, her father, and her son, specifically covering the entire HBB gene while not impacting other globin genes.

Conclusion

We found a novel 8.2 kb deletion leading to beta-thalassemia in a Chinese family in which three generations had been affected. This novel deletion may broaden the spectrum of known mutations in thalassemia and provide a reference for clinically suspected cases.

背景：地中海贫血是一种常见的单基因血液病，临床上分为α-地中海贫血和β-地中海贫血，其特点是构成成人血红蛋白的α-和β-球蛋白链不平衡。球蛋白基因的拷贝数变异（CNV）和单核苷酸变异是导致地中海贫血症的主要遗传缺陷：在一次产前检查中，一名孕妇被怀疑是地中海贫血症携带者，表现为小细胞低色素性贫血和血红蛋白成分异常。缺口聚合酶链反应（Gap-PCR）和反向点印迹（PCR-RDB）技术未检测到任何常见的地中海贫血突变。我们对该患者一家三代进行了血液学检查和进一步的遗传学分析。我们采用多重连接依赖性探针扩增（MLPA）技术来鉴定 CNVs，并使用靶向性下一代测序技术来筛选潜在的致病变异，这些变异随后通过桑格测序进行了验证。该患者及其父亲和儿子的血液学指标均表明他们是β地中海贫血症携带者。MLPA 结果显示，β-球蛋白簇存在一个大的缺失。进一步调查证实，在原告、她的父亲和儿子体内存在一个新的 8.2 kb 缺失（NC_000011.10:g.5224208_5232469del），特别是覆盖了整个 HBB 基因，而对其他球蛋白基因没有影响：结论：我们在一个中国家庭中发现了一个新的 8.2 kb 基因缺失，该基因缺失会导致 beta 型地中海贫血症，该家庭三代人都受到了影响。这种新型缺失可能会扩大地中海贫血症已知突变的范围，并为临床疑似病例提供参考。

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引用次数: 0

2024 CSCC / SQBC Joint Annual Conference 2024 CSCC / SQBC 联合年会

IF 2.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinical biochemistry

Pub Date : 2024-10-04 DOI: 10.1016/j.clinbiochem.2024.110805

引用次数: 0

The changing landscape of autoantibody testing in myasthenia gravis in the setting of novel drug treatments 新型药物治疗背景下重症肌无力自身抗体检测的变化。

IF 2.5 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinical biochemistry

Pub Date : 2024-09-30 DOI: 10.1016/j.clinbiochem.2024.110826

Ali Mousavi , Pankaj Kumar , Hans Frykman

Acquired myasthenia gravis (MG) is an autoimmune disease targeting the specific proteins in the postsynaptic muscle membrane. 50% of ocular and 80% of generalized MG have acetylcholine receptor antibodies (AChR Abs). 1–10% of MG patients have antibodies against muscle-specific kinase (MuSK), and 2–50 % of seronegative MG cases have antibodies against lipoprotein-receptor-related protein4 antibodies (LRP4 Abs). Serological testing is crucial for diagnosing and determining the appropriate therapeutic approach for MG patients. The radioimmunoprecipitation assay (RIPA) method is a historical standard test for detecting the AChR Abs and MuSK Abs. While it has nearly 100% specificity in the AChR Abs detection, its sensitivity is between 50––92%. The sensitivity and specificity of RIPA for detecting MuSK Abs is much lower. The fixed and live Cell-Based assays (f-CBA and L- CBA) have higher sensitivity than RIPA. With advancements in the serological diagnosis and management of MG, we now recommend a complete reflex testing algorithm on the first pretreatment sample of a suspected MG patient, starting with the binding and blocking assays for AChR Abs by RIPA and/ or f-CBA. If AChR Ab is negative, then reflex to MuSK Abs by RIPA and/ or CBAs. If AChR and MuSK Abs are negative, then use clustered L-CBA by request.

获得性肌无力（MG）是一种针对突触后肌膜上特定蛋白质的自身免疫性疾病。50%的眼型 MG 和 80% 的全身型 MG 都有乙酰胆碱受体抗体（AChR 抗体）。1%-10%的MG患者有肌肉特异性激酶（MuSK）抗体，2%-50%血清阴性的MG病例有脂蛋白受体相关蛋白4抗体（LRP4 Abs）。血清学检测对于诊断 MG 患者并确定适当的治疗方法至关重要。放射免疫沉淀法（RIPA）是检测 AChR Abs 和 MuSK Abs 的历史性标准检测方法。虽然该方法在检测 AChR Abs 方面的特异性接近 100%，但其灵敏度在 50%-92% 之间。RIPA 检测 MuSK Abs 的灵敏度和特异性要低得多。基于固定细胞和活细胞的检测方法（f-CBA 和 L-CBA）的灵敏度高于 RIPA。随着 MG 血清学诊断和管理的进步，我们现在建议对疑似 MG 患者的第一份预处理样本进行完整的反射检测算法，首先用 RIPA 和/或 f-CBA 对 AChR 抗体进行结合和阻断检测。如果 AChR 抗体为阴性，则通过 RIPA 和/或 CBA 对 MuSK 抗体进行检测。如果 AChR 和 MuSK 抗体均为阴性，则根据要求使用聚类 L-CBA。

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